Tgfbi^em1Yaou
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tgfbi^em1Yaou
• Name: transforming growth factor, beta induced; endonuclease-mediated mutation 1, Yasuo Ouchi
• MGI ID: MGI:6405013
• Synonyms: Tgfbi^R124C
• Gene: Tgfbi Location: Chr13:56757399-56787172 bp, + strand Genetic Position: Chr13, 30.09 cM, cytoband B-C1
• Alliance: Tgfbi^em1Yaou page

Mutation origin

• Strain of Origin: C57BL/6NCr

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Single-stranded donor oligodeoxynucleotide-mediated base-pair substitution introduced via CRISPR/Cas9 technology generated a CGC to TGT change resulting in an arginine to cysteine change at amino acid 124 in exon 4. This mutation is found in patients with lattice corneal dystrophy. (J:285437)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tgfbi Mutation: 34 strains or lines available

References

• Original: J:285437 Kitamoto K, et al., Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair. Sci Rep. 2020 Feb 6;10(1):2000
• All: 1 reference(s)