B6.Cg-Kcnn2^bc-7J/GrsrJ

Stock number: 016099
Research areas: Cell Biology Research, Neurobiology Research, Reproductive Biology Research

Description

This spontaneous mutant has the tremor, impaired gait, and male infertility found in other Kcnn2 mutants and is valuable for characterizing the comparative impact of varying mutations in this gene.

Detailed description

Bouncy 7 Jackson homozygotes are smaller than their heterozygous littermates and are noticeable as early as 2 to 3 weeks of age. They develop a moderate tremor and impaired gait. Despite this, these mice seem to have a normal life span. Light microscopic assessment of the sperm determined that the male mutants have viable sperm, yet they do not breed.

Development

The bouncy 7 Jackson mutation arose spontaneously in the B6.129P2-Apoe^tm1Unc/J strain at The Jackson Laboratory. After two cycles of backcross-intercross to C57BL/6J this mutant subline was maintained by sibling inbreeding and the Apoe^tm1Unc mutation was bred out.

Allele

Symbol: Kcnn2^bc-7J
Name: bouncy 7 Jackson
MGI accession ID: MGI:5140330
Generation method: Spontaneous
Marker symbol: Kcnn2
Marker name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
Marker synonyms: bc; DYT34; fri; hSK2; KCa2.2; NEDMAB; SK2; SKCa 2; SKCA2; small conductance calcium-activated potassium channel 2
Chromosome: 18
Strain of origin: B6.129P2-Apoe^tm1Unc/J
Molecular note: This spontaneous A-to-T transition at chromosome 18 position 45,685,419 (GRCm38) causes a nonsense mutation in the fourth exon changing amino acid 528/793/803 from arginine to a stop codon (NP_536713:p.R528*, ENSMUSP00000067884:p.R793*, NP_001299834:p.R803*).