Tbc1d24^em1Tbf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbc1d24^em1Tbf
• Name: TBC1 domain family, member 24; endonuclease-mediated mutation 1, Thomas B Friedman
• MGI ID: MGI:6195493
• Synonyms: V67Sfs*4
• Gene: Tbc1d24 Location: Chr17:24394405-24424536 bp, - strand Genetic Position: Chr17, 12.3 cM
• Alliance: Tbc1d24^em1Tbf page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Insertion
• Mutation details: CRISPR-Cas9 technology inserted a single base, A, at position 198 (c.198dupA) resulting in a substitution of serine for valine at residue 67 followed by a translation frameshift resulting in a premature translation stop codon four codons downstream (p.V67Sfs*4). (J:273646)

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: 1 reference(s)