Tbc1d24^em5Tbf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbc1d24^em5Tbf
• Name: TBC1 domain family, member 24; endonuclease-mediated mutation 5, Thomas B Friedman
• MGI ID: MGI:6490521
• Synonyms: His336Glnfs*12
• Gene: Tbc1d24 Location: Chr17:24394405-24424536 bp, - strand Genetic Position: Chr17, 12.3 cM
• Alliance: Tbc1d24^em5Tbf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted a single base, T, at position 1008 (c.1008delT) resulting in a histidine to glycine substitution at residue 336 followed by a frameshift resulting in a premature stop codon 12 codons downstream (p.His336Glnfs*12). This is a pathogenic variant seen in patients with DOORS syndrome or early infantile epileptic encephalopathy 16. (J:299025)

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 Tbc1d24 Mutation: 82 strains or lines available

References

• Original: J:299025 Tona R, et al., Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. Genes (Basel). 2020 Sep 24;11(10)
• All: 1 reference(s)