Kif4^em1Noh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kif4^em1Noh
• Name: kinesin family member 4; endonuclease-mediated mutation 1, Nobutaka Hirokawa
• MGI ID: MGI:7711987
• Synonyms: Kif4^Mut
• Gene: Kif4 Location: ChrX:99669693-99770878 bp, + strand Genetic Position: ChrX, 43.72 cM
• Alliance: Kif4^em1Noh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGC to CAG change resulting in an arginine to glutamine substitution at amino acid 728 (p.R728Q) in exon 19. GRCm39 has the CGC to CAG mutation resulting in the R to Q substitution at amino acid 729. The p.R728Q mutation was identified in an intractable childhood epilepsy patient. (J:336792)

Expression

In Structures Affected by this Mutation:

3 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 Kif4 Mutation: 12 strains or lines available

References

• Original: J:336792 Wan Y, et al., KIF4 regulates neuronal morphology and seizure susceptibility via the PARP1 signaling pathway. J Cell Biol. 2023 Feb 6;222(2)
• All: 1 reference(s)