B6-hTGFBI Mouse
Product Name
B6-hTGFBI Mouse
Product ID
C001546
Strain Name
C57BL/6JCya-Tgfbitm1(hTGFBI)/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “B6-hTGFBI Mouse (Catalog C001546) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
TGFBI
Gene Alias
CSD, CDB1, CDG2, CSD1, CSD2, CSD3, EBMD, LCD1, BIGH3, CDGG1
NCBI ID
Chromosome
Chr 5 (Human)
MGI ID
Datasheet
Strain 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 B6-hTGFBI 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.
Reference
Wang L, Zhao C, Zheng T, Zhang Y, Liu H, Wang X, Tang X, Zhao B, Liu P. Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy. Autophagy. 2022 Apr;18(4):765-782.
Strain Strategy
The sequences from Eoxn 1 to TAG stop codon of mouse Tgfbi were replaced with the sequences from Eoxn 1 to TAG stop codon of human TGFBI. The murine signal peptide was kept.
Figure 1. Gene editing strategy of B6-hTGFBI mice.
Application Area
Research on corneal dystrophy (CD);
Preclinical evaluation of TGFBI-targeted drugs.
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