Tbc1d24^em2Tbf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbc1d24^em2Tbf
• Name: TBC1 domain family, member 24; endonuclease-mediated mutation 2, Thomas B Friedman
• MGI ID: MGI:6195494
• Synonyms: S324Tfs*3
• Gene: Tbc1d24 Location: Chr17:24394405-24424536 bp, - strand Genetic Position: Chr17, 12.3 cM
• Alliance: Tbc1d24^em2Tbf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-Cas9 technology generated a 2 base pair deletion (c.969_970delCT) in the alternatively-spliced micro-exon 4 (equivalent to micro-exon 3 in human) resulting in a substitution of threonine for serine at residue 324 followed by a translation frameshift resulting in a premature translation stop codon three codons downstream (S324Tfs*3). This is one of the pathogenic variants associated with early infantile epileptic encephalopathy. (J:273646)

Disease models

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:273646 Tona R, et al., The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. Hum Mol Genet. 2019 May 1;28(9):1530-1547
• All: 2 reference(s)