Kif5c^tm2.1Ics
Targeted Allele Detail

Summary

• Symbol: Kif5c^tm2.1Ics
• Name: kinesin family member 5C; targeted mutation 2.1, Mouse Clinical Institute
• MGI ID: MGI:7616496
• Synonyms: Kif5c^E237V
• Gene: Kif5c Location: Chr2:49509310-49664790 bp, + strand Genetic Position: Chr2, 28.68 cM, cytoband C
• Alliance: Kif5c^tm2.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Glutamic acid codon 237 (GAA) in exon 8 was changed to valine (GTA) (p.E237V). A loxP site was inserted into intron 7, and an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 8. The neo cassette was removed through subsequent Flp-mediated recombination leaving exon 8 floxed. Loss-of-function mutations in the human ortholog are associated with complex cortical dysplasia with other brain malformations 2 (CDCBM2). (J:342743)

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 Kif5c Mutation: 49 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)