Kcnd3^tm1Tfts
Targeted Allele Detail

Summary

• Symbol: Kcnd3^tm1Tfts
• Name: potassium voltage-gated channel, Shal-related family, member 3; targeted mutation 1, Ting-Fen Tsa
• MGI ID: MGI:8266521
• Synonyms: Kcnd3 F227del
• Gene: Kcnd3 Location: Chr3:105359646-105581318 bp, + strand Genetic Position: Chr3, 46.32 cM, cytoband F3
• Alliance: Kcnd3^tm1Tfts page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:363793
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutation: Insertion
• Mutation details: Phenylalanine codon 227 (TTT) in exon 2 was deleted (p.F227del). The mutation, in the second transmembrane domain of the encoded protein, is the equivalent of the same human mutation associated with spinocerebellar ataxia type 22 (SCA22). It causes degeneration of several cellular compartments and trafficking defects, which affects neural electrophysiology and leads to motor coordination and balance deficits. (J:363793)

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 Kcnd3 Mutation: 62 strains or lines available

References

• Original: J:363793 Hung HC, et al., A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning. J Pathol. 2025 Jan;265(1):57-68
• All: 1 reference(s)