Kif12^em1Noh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kif12^em1Noh
• Name: kinesin family member 12; endonuclease-mediated mutation 1, Nobutaka Hirokawa
• MGI ID: MGI:8242619
• Synonyms: Kif12^Mut
• Gene: Kif12 Location: Chr4:63083867-63090368 bp, - strand Genetic Position: Chr4, 33.96 cM, cytoband C1
• Alliance: Kif12^em1Noh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an ACCCGG to ACGTGA change at c.1084_1089 to introduce p.T362T silent mutation and p.R363X nonsense mutation to provide premature termination of the protein translation and a Pml1 restriction site for genotyping. This corresponds to the human p.R368X mutation identified in a patient with liver cirrhosis. (J:371295)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Kif12 Mutation: 34 strains or lines available

References

• Original: J:371295 Etemad A, et al., Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover. EMBO J. 2025 Mar;44(6):1608-1640
• All: 1 reference(s)