C57BL/6J-Kcnn2^bc-6J/GrsrJ

Stock number: 013589
Research areas: Cell Biology Research, Neurobiology Research, Reproductive Biology Research

Description

This point mutation causes a premature stop codon in the last exon of Kcnn2 and is part of an allelic series useful for the study of small conductance calcium activated potassium channels

Detailed description

Mice homozygous for the bouncy 6 Jackson mutation display a jittery trembling movement most noticeable at 3 weeks of age and less apparent as the mice age. Males are usually sterile, but female homozygotes have bred and in vitro fertilization with sperm from homozygous males is successful.

Development

The bouncy 6 Jackson mutation was identified in the offspring of an ENU mutagenized C57BL/6J male. This mutation was maintained coisogenic on C57BL/6J and sperm was cryopreserved from homozygous males at generation N2F12.

Allele

Symbol: Kcnn2^bc-6J
Name: bouncy 6 Jackson
MGI accession ID: MGI:4834267
Generation method: Chemically induced (ENU)
Attributes: Not Specified
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: C57BL/6J
Molecular note: A failed complementation test with bouncy 3 Jackson proved the two allelic and exome sequencing identified a single G-to-A transversion at chromosome 18 position 45,685,419 (GRCm38) in bouncy 6 Jackson, which causes a nonsense mutation changing tryptophan to a stop codon at residue 345 in the last exon (NP_536713:p.W345*, ENSMUSP00000067884:p.W610*, NP_001299834:p.W620*).