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Abca4/Rdh8-DKO
Product ID:
C001968
Strain:
C57BL/6JCya
Status:
Description:
The Abca4/Rdh8-DKO mouse is a dual-gene knockout model obtained by mating Rdh8-KO mice (catalog No.: C001969) with Abca4-KO mice (catalog No.: C002024). This model can be used to investigate the pathogenic mechanisms and therapeutic strategies of diseases, including Stargardt disease (STGD) and age‑related macular degeneration (AMD), and facilitates the evaluation of synergistic effects of polygenic therapies.
The Abca4/Rdh8-DKO mouse is a dual-gene knockout model obtained by mating Rdh8-KO mice (catalog No.: C001969) with Abca4-KO mice (catalog No.: C002024). This model can be used to investigate the pathogenic mechanisms and therapeutic strategies of diseases, including Stargardt disease (STGD) and age‑related macular degeneration (AMD), and facilitates the evaluation of synergistic effects of polygenic therapies.
Abca4-KO
Product ID:
C002024
Strain:
C57BL/6JCya
Status:
Description:
Stargardt disease (STGD), a hereditary macular dystrophy, is characterized by the presence of yellowish flecks within the retinal pigment epithelium (RPE), ultimately culminating in macular atrophy. Typically manifesting in childhood and adolescence, STGD leads to progressive central vision loss and mild dyschromatopsia. Fundoscopic examination may reveal pale yellow lesions exhibiting a characteristic gold foil-like sheen, accompanied by yellow-white spots surrounding the posterior pole. In advanced stages, atrophy of the RPE, photoreceptors, and choriocapillaris is observed. This bilateral and typically synchronous condition affects both eyes with comparable incidence across sexes, estimated between 1/8,000 and 1/13,000. STGD is predominantly an autosomal recessive disorder, with mutations in the ABCA4 gene accounting for approximately 95% of cases. ABCA4 encodes a retina-specific ABC transporter protein crucial for the clearance of retinal derivatives and toxic metabolites generated during rhodopsin photobleaching. Consequently, ABCA4 mutations result in the accumulation of these cytotoxic substances, triggering apoptosis of both RPE and photoreceptor cells and ultimately driving retinal degeneration. Notably, ABCA4 mutations have been implicated in a spectrum of retinal diseases, including STGD, cone-rod dystrophy (CRD), age-related macular degeneration (AMD), and retinitis pigmentosa (RP), with the specific clinical phenotype correlating with the nature and severity of the ABCA4 mutation.
This strain is an Abca4 gene knockout (KO) mouse model. Gene-editing technology was used to delete the protein-coding sequence of the Abca4 gene (the homolog of the human ABCA4 gene) in mice. Previous studies have demonstrated that Abca4 KO mice exhibit delayed dark adaptation following photobleaching and a slow progression of photoreceptor degeneration[1]. Homozygous Abca4-KO mice are viable and fertile.
Stargardt disease (STGD), a hereditary macular dystrophy, is characterized by the presence of yellowish flecks within the retinal pigment epithelium (RPE), ultimately culminating in macular atrophy. Typically manifesting in childhood and adolescence, STGD leads to progressive central vision loss and mild dyschromatopsia. Fundoscopic examination may reveal pale yellow lesions exhibiting a characteristic gold foil-like sheen, accompanied by yellow-white spots surrounding the posterior pole. In advanced stages, atrophy of the RPE, photoreceptors, and choriocapillaris is observed. This bilateral and typically synchronous condition affects both eyes with comparable incidence across sexes, estimated between 1/8,000 and 1/13,000. STGD is predominantly an autosomal recessive disorder, with mutations in the ABCA4 gene accounting for approximately 95% of cases. ABCA4 encodes a retina-specific ABC transporter protein crucial for the clearance of retinal derivatives and toxic metabolites generated during rhodopsin photobleaching. Consequently, ABCA4 mutations result in the accumulation of these cytotoxic substances, triggering apoptosis of both RPE and photoreceptor cells and ultimately driving retinal degeneration. Notably, ABCA4 mutations have been implicated in a spectrum of retinal diseases, including STGD, cone-rod dystrophy (CRD), age-related macular degeneration (AMD), and retinitis pigmentosa (RP), with the specific clinical phenotype correlating with the nature and severity of the ABCA4 mutation.
This strain is an Abca4 gene knockout (KO) mouse model. Gene-editing technology was used to delete the protein-coding sequence of the Abca4 gene (the homolog of the human ABCA4 gene) in mice. Previous studies have demonstrated that Abca4 KO mice exhibit delayed dark adaptation following photobleaching and a slow progression of photoreceptor degeneration[1]. Homozygous Abca4-KO mice are viable and fertile.
Cfh-KO
Product ID:
C001776
Strain:
C57BL/6JCya
Status:
Description:
The CFH gene encodes complement factor H, a crucial secreted plasma glycoprotein with twenty short consensus repeat (SCR) domains. Its primary function is to regulate the complement system, a vital part of the innate immune response. CFH acts to prevent uncontrolled activation of the complement pathway on healthy host cells and tissues, thereby restricting its destructive action to foreign invaders [1]. Gene expression of CFH is notably high in the liver, where it is synthesized and secreted into the bloodstream. It is also expressed in various other tissues, including ocular tissues like the retina and retinal pigment epithelium (RPE), sclera, and ciliary body, as well as in the kidney, lung, and certain immune cells [2-4]. The protein binds to C3b, accelerating the decay of alternative pathway C3-convertase and acting as a cofactor for Factor I-mediated inactivation of C3b [1-2]. Dysregulation or mutations in the CFH gene are associated with several diseases, including age-related macular degeneration (AMD), a common cause of vision loss characterized by drusen accumulation, atypical hemolytic-uremic syndrome (aHUS), which causes abnormal blood clots and kidney failure, C3 glomerulopathy (C3G), a rare kidney disease, and Membranoproliferative glomerulonephritis (MPGN), particularly type II (also known as Dense Deposit Disease), a group of kidney diseases characterized by inflammation and damage to the kidney's filtering units (glomeruli), often due to complement dysregulation [2-4].
The Cfh-KO mouse is a gene knockout model created using gene-editing techniques to knock out exons 2~3 of the Cfh gene (the homolog of the human CFH gene) in mice. This model can be used for research into the pathogenic mechanisms of diseases such as age-related macular degeneration, atypical hemolytic uremic syndrome, C3 glomerulopathy, and Type II membranoproliferative glomerulonephritis, as well as for the development of related treatment methods.
The CFH gene encodes complement factor H, a crucial secreted plasma glycoprotein with twenty short consensus repeat (SCR) domains. Its primary function is to regulate the complement system, a vital part of the innate immune response. CFH acts to prevent uncontrolled activation of the complement pathway on healthy host cells and tissues, thereby restricting its destructive action to foreign invaders [1]. Gene expression of CFH is notably high in the liver, where it is synthesized and secreted into the bloodstream. It is also expressed in various other tissues, including ocular tissues like the retina and retinal pigment epithelium (RPE), sclera, and ciliary body, as well as in the kidney, lung, and certain immune cells [2-4]. The protein binds to C3b, accelerating the decay of alternative pathway C3-convertase and acting as a cofactor for Factor I-mediated inactivation of C3b [1-2]. Dysregulation or mutations in the CFH gene are associated with several diseases, including age-related macular degeneration (AMD), a common cause of vision loss characterized by drusen accumulation, atypical hemolytic-uremic syndrome (aHUS), which causes abnormal blood clots and kidney failure, C3 glomerulopathy (C3G), a rare kidney disease, and Membranoproliferative glomerulonephritis (MPGN), particularly type II (also known as Dense Deposit Disease), a group of kidney diseases characterized by inflammation and damage to the kidney's filtering units (glomeruli), often due to complement dysregulation [2-4].
The Cfh-KO mouse is a gene knockout model created using gene-editing techniques to knock out exons 2~3 of the Cfh gene (the homolog of the human CFH gene) in mice. This model can be used for research into the pathogenic mechanisms of diseases such as age-related macular degeneration, atypical hemolytic uremic syndrome, C3 glomerulopathy, and Type II membranoproliferative glomerulonephritis, as well as for the development of related treatment methods.
Crb1-KO
Product ID:
C001886
Strain:
C57BL/6JCya
Status:
Description:
The Crb1 gene, whose full name is Crumbs homolog 1, is a gene closely related to retinal development and function. The protein encoded by the Crb1 gene plays an important role in maintaining the connection and polarity between retinal pigment epithelial (RPE) cells and photoreceptor cells. RPE cells are responsible for absorbing and transmitting light signals, while photoreceptor cells are responsible for converting these signals into electrical signals, thus producing vision. Mutations in the Crb1 gene can lead to retinal dysplasia and functional disorders, causing a series of inherited retinal diseases, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, etc. [1]. Retinal diseases caused by Crb1 gene mutations are highly heterogeneous, and different mutations can lead to different clinical manifestations and disease severities. Diseases caused by Crb1 gene mutations are mainly characterized by the damage and death of retinal pigment epithelial cells and photoreceptor cells, resulting in vision loss and blindness. In addition, Crb1 gene mutations may also be associated with other eye diseases such as abnormal eye development and myopia [2].
Crb1-KO mice are a gene knockout (KO) model in which exon 3 of the Crb1 gene in mice has been knocked out using gene-editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, as well as for the development of relevant treatment methods.
The Crb1 gene, whose full name is Crumbs homolog 1, is a gene closely related to retinal development and function. The protein encoded by the Crb1 gene plays an important role in maintaining the connection and polarity between retinal pigment epithelial (RPE) cells and photoreceptor cells. RPE cells are responsible for absorbing and transmitting light signals, while photoreceptor cells are responsible for converting these signals into electrical signals, thus producing vision. Mutations in the Crb1 gene can lead to retinal dysplasia and functional disorders, causing a series of inherited retinal diseases, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, etc. [1]. Retinal diseases caused by Crb1 gene mutations are highly heterogeneous, and different mutations can lead to different clinical manifestations and disease severities. Diseases caused by Crb1 gene mutations are mainly characterized by the damage and death of retinal pigment epithelial cells and photoreceptor cells, resulting in vision loss and blindness. In addition, Crb1 gene mutations may also be associated with other eye diseases such as abnormal eye development and myopia [2].
Crb1-KO mice are a gene knockout (KO) model in which exon 3 of the Crb1 gene in mice has been knocked out using gene-editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), and cone-rod dystrophy, as well as for the development of relevant treatment methods.
Gucy2f-KO
Product ID:
C001887
Strain:
C57BL/6JCya
Status:
Description:
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). RetGC2 is a retina-specific guanylate cyclase responsible for synthesizing cyclic guanosine monophosphate (cGMP) in photoreceptors. cGMP plays a crucial role in the retinal phototransduction process, participating in the photoreceptor's light signal transduction and light adaptation processes. The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [1-2]. Therefore, the study of Gucy2f is of great significance for understanding the pathogenesis of retinal diseases and developing new treatment methods. In addition, researchers have also found that somatic mutations of the GUCY2F gene exist in human cancers, including breast cancer, lung cancer, and pancreatic cancer [3]. These studies indicate that the GUCY2F gene may play an important role in the occurrence and development of cancer. The GUCY2F gene is also associated with pulmonary arterial hypertension, a severe complication of lung diseases that can lead to heart failure and death [4].
The Gucy2f-KO mouse is a gene-knockout (KO) model in which exon 3 of the Gucy2f gene in mice is knocked out using gene-editing technology. This model can be used for research on the pathogenic mechanisms of retinal diseases, such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD), as well as the development of relevant treatment methods.
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). RetGC2 is a retina-specific guanylate cyclase responsible for synthesizing cyclic guanosine monophosphate (cGMP) in photoreceptors. cGMP plays a crucial role in the retinal phototransduction process, participating in the photoreceptor's light signal transduction and light adaptation processes. The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [1-2]. Therefore, the study of Gucy2f is of great significance for understanding the pathogenesis of retinal diseases and developing new treatment methods. In addition, researchers have also found that somatic mutations of the GUCY2F gene exist in human cancers, including breast cancer, lung cancer, and pancreatic cancer [3]. These studies indicate that the GUCY2F gene may play an important role in the occurrence and development of cancer. The GUCY2F gene is also associated with pulmonary arterial hypertension, a severe complication of lung diseases that can lead to heart failure and death [4].
The Gucy2f-KO mouse is a gene-knockout (KO) model in which exon 3 of the Gucy2f gene in mice is knocked out using gene-editing technology. This model can be used for research on the pathogenic mechanisms of retinal diseases, such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD), as well as the development of relevant treatment methods.
Gucy2e-KO
Product ID:
C001927
Strain:
C57BL/6JCya
Status:
Description:
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4].
Gucy2e-KO mice are gene knockout (KO) models in which exons 4 to 11 of the Gucy2e gene in mice are knocked out using gene editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4].
Gucy2e-KO mice are gene knockout (KO) models in which exons 4 to 11 of the Gucy2e gene in mice are knocked out using gene editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e&Gucy2f dKO
Product ID:
C001928
Strain:
C57BL/6JCya
Status:
Description:
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions [5].
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [6-7].
Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions [5].
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [6-7].
Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
huTGFBI
Product ID:
C001546
Strain:
C57BL/6JCya
Status:
Description:
Corneal dystrophy (CD) refers to a group of primary hereditary progressive corneal diseases. The typical clinical presentation involves gradual loss of corneal transparency in both eyes, often leading to recurrent corneal erosions and visual impairment. The TGFBI gene (also known as BIGH3) encodes an extracellular matrix protein called keratoepithelin (KE protein), which plays a role in cell growth, differentiation, wound healing, cell adhesion, migration, apoptosis, proliferation, and tumorigenesis [1]. Mutations in the TGFBI gene are associated with various types of corneal dystrophy. Abnormal accumulation of mutated TGFBI deposits in the corneal epithelium and stroma progressively affects corneal transparency, leading to visual impairment.
Currently, therapeutic pipelines targeting the TGFBI gene have entered preclinical research stages. For instance, SiSaf Ltd. is developing a siRNA drug pipeline called SIS-201-CD, which aims to treat the disease by specifically inhibiting abnormal TGFBI expression. Most gene therapies target human genes, but considering the genetic differences between animals and humans, humanizing mouse genes can accelerate the development of TGFBI-targeted gene therapies for clinical use. This strain is a mouse Tgfbi gene humanized model and can be used for research on CD. The homozygous huTGFBI mice are viable and fertile. In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on this strain and provide customized services for specific mutations to meet the experimental needs in pharmacology and other fields related to CD.
Corneal dystrophy (CD) refers to a group of primary hereditary progressive corneal diseases. The typical clinical presentation involves gradual loss of corneal transparency in both eyes, often leading to recurrent corneal erosions and visual impairment. The TGFBI gene (also known as BIGH3) encodes an extracellular matrix protein called keratoepithelin (KE protein), which plays a role in cell growth, differentiation, wound healing, cell adhesion, migration, apoptosis, proliferation, and tumorigenesis [1]. Mutations in the TGFBI gene are associated with various types of corneal dystrophy. Abnormal accumulation of mutated TGFBI deposits in the corneal epithelium and stroma progressively affects corneal transparency, leading to visual impairment.
Currently, therapeutic pipelines targeting the TGFBI gene have entered preclinical research stages. For instance, SiSaf Ltd. is developing a siRNA drug pipeline called SIS-201-CD, which aims to treat the disease by specifically inhibiting abnormal TGFBI expression. Most gene therapies target human genes, but considering the genetic differences between animals and humans, humanizing mouse genes can accelerate the development of TGFBI-targeted gene therapies for clinical use. This strain is a mouse Tgfbi gene humanized model and can be used for research on CD. The homozygous huTGFBI mice are viable and fertile. In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on this strain and provide customized services for specific mutations to meet the experimental needs in pharmacology and other fields related to CD.
huNRL
Product ID:
C001799
Strain:
C57BL/6JCya
Status:
Description:
The NRL (neural retina leucine zipper) gene encodes a basic motif-leucine zipper (bZIP) transcription factor of the Maf subfamily, which plays a critical role in the development and function of photoreceptor cells, particularly rods, in the mammalian retina. Gene expression of NRL is highly specific to the retina, appearing in postmitotic neuronal cells during embryonic development and maintaining high levels in mature neural retina. It functions as a master regulator of rod photoreceptor cell fate, working in conjunction with other transcription factors like CRX and NR2E3 to activate rod-specific genes (e.g., rhodopsin) and repress cone-specific genes. Cellular tissues predominantly labeled by NRL include rod photoreceptor nuclei, with some labeling also observed in rod and cone inner segments, somata, and synapses, and weak labeling in the cytoplasm of scattered cells in the inner nuclear and ganglion cell layers. Mutations in the NRL gene are associated with various inherited retinal degenerative diseases, most notably Retinitis Pigmentosa (RP), which can manifest as autosomal dominant (Retinitis Pigmentosa 27) or autosomal recessive forms (clumped pigmentary retinal degeneration, resembling Enhanced S-cone Syndrome), leading to progressive loss of vision [1-3].
The huNRL mouse is a humanized model, constructed by replacing the sequences from 5'UTR to 3'UTR of the endogenous mouse Nrl gene with the corresponding human NRL gene sequence. huNRL mice can be used for research into the pathogenesis of various inherited retinal degenerative diseases such as Retinitis Pigmentosa (RP). They are also useful for the screening, development, and safety evaluation of NRL-targeted drugs.
The NRL (neural retina leucine zipper) gene encodes a basic motif-leucine zipper (bZIP) transcription factor of the Maf subfamily, which plays a critical role in the development and function of photoreceptor cells, particularly rods, in the mammalian retina. Gene expression of NRL is highly specific to the retina, appearing in postmitotic neuronal cells during embryonic development and maintaining high levels in mature neural retina. It functions as a master regulator of rod photoreceptor cell fate, working in conjunction with other transcription factors like CRX and NR2E3 to activate rod-specific genes (e.g., rhodopsin) and repress cone-specific genes. Cellular tissues predominantly labeled by NRL include rod photoreceptor nuclei, with some labeling also observed in rod and cone inner segments, somata, and synapses, and weak labeling in the cytoplasm of scattered cells in the inner nuclear and ganglion cell layers. Mutations in the NRL gene are associated with various inherited retinal degenerative diseases, most notably Retinitis Pigmentosa (RP), which can manifest as autosomal dominant (Retinitis Pigmentosa 27) or autosomal recessive forms (clumped pigmentary retinal degeneration, resembling Enhanced S-cone Syndrome), leading to progressive loss of vision [1-3].
The huNRL mouse is a humanized model, constructed by replacing the sequences from 5'UTR to 3'UTR of the endogenous mouse Nrl gene with the corresponding human NRL gene sequence. huNRL mice can be used for research into the pathogenesis of various inherited retinal degenerative diseases such as Retinitis Pigmentosa (RP). They are also useful for the screening, development, and safety evaluation of NRL-targeted drugs.
huANGPT2/huVEGFA
Product ID:
C001691
Strain:
C57BL/6JCya
Status:
Description:
The Vascular Endothelial Growth Factor (VEGF) family is a group of particular endothelial growth factors intimately associated with angiogenesis. These factors promote increased vascular permeability, extracellular matrix degeneration, vascular endothelial cell migration and proliferation, and are capable of stimulating angiogenesis and increasing the permeability of existing vessels. As such, they play a pivotal role in normal vascular development and wound healing. The VEGF family comprises VEGFA, VEGFB, VEGFC, VEGFD, VEGFE, and PLGF [1]. Of these, VEGFA is the most commonly targeted in research related to neovascular ophthalmic diseases due to its crucial role in the proliferation, migration, and formation of endothelial cell microvessels [2]. Overexpression of VEGFA in the eye can result in abnormal vascular growth and leakage, leading to various ophthalmic diseases such as Age-Related Macular Degeneration (AMD), Diabetic Retinopathy (DR), and corneal neovascularization [2-3]. The progression of solid tumors depends on vascularization and angiogenesis within malignant tissues, with VEGFA playing a crucial role among various pro-angiogenic factors. The VEGFA gene is upregulated in many known tumors, correlating with tumor staging and progression. Blocking VEGFA may lead to vascular network regression, thereby inhibiting tumor growth [4]. Thus, VEGFA is an important target for anti-angiogenic cancer therapies.
Angiopoietin-2 (ANG2/ANGPT2), encoded by the ANGPT2 gene, is a secreted glycoprotein of the angiopoietin family predominantly expressed in vascular endothelial cells and stored in Weibel-Palade bodies for rapid release. ANGPT2 regulates vascular biology in a context-dependent manner by binding to the Tie2 tyrosine kinase receptor, playing pivotal roles in angiogenesis and vascular remodeling [5]. Its molecular structure includes a coiled-coil domain facilitating oligomerization and a fibrinogen-like domain critical for receptor binding. Functionally, ANGPT2 acts as a partial Tie2 receptor antagonist to Angiopoietin-1 (ANG1). Through competitive inhibition of Tie2 signaling, ANGPT2 disrupts vascular endothelial homeostasis, inducing increased vascular permeability and structural plasticity. In synergy with vascular endothelial growth factor (VEGF), ANGPT2 drives angiogenic sprouting and pathological neovascularization. Conversely, under conditions of low or absent VEGF, it mediates vascular regression [6-7]. ANGPT2 plays a central pathological role in vascular proliferative diseases such as tumor angiogenesis, diabetic retinopathy, and age-related macular degeneration. Endothelial cell activation and inflammatory responses mediated by ANGPT2 also contribute to the pathogenesis of inflammatory conditions including sepsis and rheumatoid arthritis [8]. Therapeutic strategies targeting ANGPT2 include monoclonal antibodies (e.g., Nesvacumab) and peptide-Fc fusion proteins (e.g., Trebananib), often combined with VEGF inhibitors to enhance anti-angiogenic efficacy [9-10]. Current research efforts are focused on optimizing ANGPT2/VEGF dual-target inhibition strategies and developing biomarkers, aiming to improve clinical outcomes in tumors and ocular vascular diseases and validate its translational value as a therapeutic target in vascular and inflammatory diseases [11-12].
huANGPT2/huVEGFA mice are VEGFA and ANGPT2 double humanized mouse models obtained by mating VEGFA humanized mouse models (Catalog No. C001555) with ANGPT2 humanized mouse models (Catalog No. C001615). huANGPT2/huVEGFA mice express human VEGFA and ANGPT2 genomic sequences under the control of mouse promoters. This model is capable of reproducing human VEGFA and ANGPT2 and is a valuable tool for studying cancer, vascular diseases and autoimmune disorders. In addition, this model also provides a powerful preclinical research platform for evaluating the efficacy and mechanism of therapeutic drugs targeting VEGFA and ANGPT2.
The Vascular Endothelial Growth Factor (VEGF) family is a group of particular endothelial growth factors intimately associated with angiogenesis. These factors promote increased vascular permeability, extracellular matrix degeneration, vascular endothelial cell migration and proliferation, and are capable of stimulating angiogenesis and increasing the permeability of existing vessels. As such, they play a pivotal role in normal vascular development and wound healing. The VEGF family comprises VEGFA, VEGFB, VEGFC, VEGFD, VEGFE, and PLGF [1]. Of these, VEGFA is the most commonly targeted in research related to neovascular ophthalmic diseases due to its crucial role in the proliferation, migration, and formation of endothelial cell microvessels [2]. Overexpression of VEGFA in the eye can result in abnormal vascular growth and leakage, leading to various ophthalmic diseases such as Age-Related Macular Degeneration (AMD), Diabetic Retinopathy (DR), and corneal neovascularization [2-3]. The progression of solid tumors depends on vascularization and angiogenesis within malignant tissues, with VEGFA playing a crucial role among various pro-angiogenic factors. The VEGFA gene is upregulated in many known tumors, correlating with tumor staging and progression. Blocking VEGFA may lead to vascular network regression, thereby inhibiting tumor growth [4]. Thus, VEGFA is an important target for anti-angiogenic cancer therapies.
Angiopoietin-2 (ANG2/ANGPT2), encoded by the ANGPT2 gene, is a secreted glycoprotein of the angiopoietin family predominantly expressed in vascular endothelial cells and stored in Weibel-Palade bodies for rapid release. ANGPT2 regulates vascular biology in a context-dependent manner by binding to the Tie2 tyrosine kinase receptor, playing pivotal roles in angiogenesis and vascular remodeling [5]. Its molecular structure includes a coiled-coil domain facilitating oligomerization and a fibrinogen-like domain critical for receptor binding. Functionally, ANGPT2 acts as a partial Tie2 receptor antagonist to Angiopoietin-1 (ANG1). Through competitive inhibition of Tie2 signaling, ANGPT2 disrupts vascular endothelial homeostasis, inducing increased vascular permeability and structural plasticity. In synergy with vascular endothelial growth factor (VEGF), ANGPT2 drives angiogenic sprouting and pathological neovascularization. Conversely, under conditions of low or absent VEGF, it mediates vascular regression [6-7]. ANGPT2 plays a central pathological role in vascular proliferative diseases such as tumor angiogenesis, diabetic retinopathy, and age-related macular degeneration. Endothelial cell activation and inflammatory responses mediated by ANGPT2 also contribute to the pathogenesis of inflammatory conditions including sepsis and rheumatoid arthritis [8]. Therapeutic strategies targeting ANGPT2 include monoclonal antibodies (e.g., Nesvacumab) and peptide-Fc fusion proteins (e.g., Trebananib), often combined with VEGF inhibitors to enhance anti-angiogenic efficacy [9-10]. Current research efforts are focused on optimizing ANGPT2/VEGF dual-target inhibition strategies and developing biomarkers, aiming to improve clinical outcomes in tumors and ocular vascular diseases and validate its translational value as a therapeutic target in vascular and inflammatory diseases [11-12].
huANGPT2/huVEGFA mice are VEGFA and ANGPT2 double humanized mouse models obtained by mating VEGFA humanized mouse models (Catalog No. C001555) with ANGPT2 humanized mouse models (Catalog No. C001615). huANGPT2/huVEGFA mice express human VEGFA and ANGPT2 genomic sequences under the control of mouse promoters. This model is capable of reproducing human VEGFA and ANGPT2 and is a valuable tool for studying cancer, vascular diseases and autoimmune disorders. In addition, this model also provides a powerful preclinical research platform for evaluating the efficacy and mechanism of therapeutic drugs targeting VEGFA and ANGPT2.
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