Tgfbi^em1Pliu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tgfbi^em1Pliu
• Name: transforming growth factor, beta induced; endonuclease-mediated mutation 1, Ping Liu
• MGI ID: MGI:7410824
• Synonyms: Tgfbi^{Gly623_Tyr626del}
• Gene: Tgfbi Location: Chr13:56757399-56787172 bp, + strand Genetic Position: Chr13, 30.09 cM, cytoband B-C1
• Alliance: Tgfbi^em1Pliu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 12 bp deletion, c.1867_1878GTGTGGTCTATGdel in exon 14 (p.Gly623_Tyr626del). This corresponds to a novel mutation (p.Gly623_His626del) in the human gene identified in a Thiel-Behnke corneal dystrophy pedigree. (J:325611)

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: 39 strains or lines available

References

• Original: J:325611 Wang L, et al., 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
• All: 1 reference(s)