Kcnma1^tm1.1Hyng
Targeted Allele Detail

Summary

• Symbol: Kcnma1^tm1.1Hyng
• Name: potassium large conductance calcium-activated channel, subfamily M, alpha member 1; targeted mutation 1.1, Huanghe Yang
• MGI ID: MGI:7524752
• Synonyms: BK^D434G, BK^DG
• Gene: Kcnma1 Location: Chr14:23342356-24055173 bp, - strand Genetic Position: Chr14, 12.92 cM
• Alliance: Kcnma1^tm1.1Hyng page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:337228
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An A to G change resulting in an aspartate to glycine substitution at amino acid 434 (p.D434G) was introduced in exon 10 and a loxP-flanked neomycin selection cassette was inserted downstream of the mutated exon 10. The neomycin selection cassette was removed via flp-mediated recombination. This is a variant identified in a large family of patients with generalized epilepsy and/or paroxysmal nonkinesigenic dyskinesia. (J:337228)

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 Kcnma1 Mutation: 105 strains or lines available

References

• Original: J:337228 Dong P, et al., Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia. Proc Natl Acad Sci U S A. 2022 Mar 22;119(12):e2200140119
• All: 2 reference(s)