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. Homozygous Abca4 KO mice are viable and fertile.

The Agxt KO mouse is a gene knockout model created using gene-editing techniques to knock out the coding sequence of the Agxt gene (the homolog of the human AGXT gene) in mice. This model is used to research the pathogenic mechanisms of primary hyperoxaluria and develop related therapeutic strategies.

This strain is an Atp7b deletion mouse model, which uses gene editing technology to knock out Atp7b, the homolog of the human ATP7B gene in mice that lack the expression of ATP7B protein and can be used in the study of disorders related to copper metabolisms such as Wilson's disease, acute liver failure, and steatohepatitis. The heterozygous Atp7b KO mice are viable and fertile, and homozygous mice have a reduced life expectancy.

B6-3*hSMN2 mice are a humanized disease model carrying three copies of the human SMN2 gene, which can be used to mimic SMA patients with three SMN2 gene copies. Since the SMN2 gene primarily produces SMNΔ7 protein lacking exon 7, rather than full-length SMN protein, the humanized SMN2 gene cannot fully compensate for the abnormalities caused by Smn1 deficiency, resulting in the manifestation of SMA-like phenotypes in this model.

B6-4*hSMN2 mice are a humanized disease model carrying four copies of the human SMN2 gene, which can be used to mimic SMA patients with four SMN2 gene copies. Since the SMN2 gene primarily produces SMNΔ7 protein lacking exon 7, rather than full-length SMN protein, the humanized SMN2 gene cannot fully compensate for the abnormalities caused by Smn1 deficiency, resulting in the manifestation of SMA-like phenotypes in this model.

The B6-F8 KO mouse is a hemophilia A (HA) research model developed through gene-editing techniques, where the murine F8 gene, homologous to the human F8 gene, is knocked out. Studies have shown that homozygous F8 knockout mice are viable and develop normally. Since the murine F8 gene is located on the X chromosome, hemizygous male and homozygous female B6-F8 KO mice exhibit a consistent phenotype with significantly lower FVIII activity compared to wild-type mice, prolonged clotting time, and a classic hemophilia A phenotype.

This model was constructed by introducing the Rpe65 R44X point mutation into the mouse gene by gene editing techniques, resulting in a C to T base substitution at nucleotide 130 of the gene encoding the Rpe65 protein, leading to a stop codon at amino acid position 44 instead of arginine (p.R44*). It has been reported that the eyes of homozygous mice carrying this mutation will not express the RPE65 protein 3. This model can be used in studies of retinitis pigmentosa 20 (RP20), Leber's congenital amaurosis type 2 (LCA 2), and the visual cycle.

The B6-hABCA4*c.5461-10T>C mouse is a humanized model of the Abca4 gene, where the mouse Abca4 gene has been replaced with the human ABCA4 gene carrying the c.5461-10T>C mutation using gene editing technology. This model can be used for research on various retinal degeneration diseases such as Stargardt disease (STGD), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP).

This strain is a humanized point mutation model constructed by introducing the common pathogenic mutation p.H1069Q (CAC>CAA) into the humanized ATP7B gene of B6-hATP7B mice (Catalog No.: I001130). This model is suitable for studying the pathogenic mechanisms of Wilson's disease, and homozygous animals are viable and fertile.

The B6-hC3 mouse is a mouse C3 humanized model created by replacing the mouse C3 gene with the human C3 gene using gene-editing technology. The humanized regions include the 5’UTR and 3’UTR. Under natural breeding conditions, homozygous B6-hC3 mice exhibit mortality around 10 weeks of age, and it has been observed that heterozygous mice also experience mortality.