C3H/HeSn-bc^3J/J

Stock number: 000775
Research areas: Cell Biology Research, Developmental Biology Research, Neurobiology Research, Reproductive Biology Research

Description

Similar to the original bouncy allele (bc), mice homozygous for bouncy 3J (bc^3J) exhibit moderate tremors, an impaired (bouncy) gait, male infertility and small body size. This mutant mouse strain may be useful in neurological studies of motor coordination.

Detailed description

Similar to the original bouncy allele (bc), mice homozygous for bouncy 3J (bc^3J) exhibit moderate tremors, an impaired (bouncy) gait, male infertility and small body size. Some homozygous mice die before weaning; mice that survive have a normal lifespan. This mutant mouse strain may be useful in neurological studies of motor coordination. The Clcc1^m1J spontaneous mutation, which causes increased sensitivity to endoplasmic reticulum stress in the cerebellum, was identified in C3H/HeSnJ (Jia et al., 2015) and has been found homozygous in all C3H/HeSn strains assessed at The Jackson Laboratory, including this mutant subline, which is homozygous for Clcc1^m1J.

Development

Bouncy 3 Jackson (bc^3J) arose spontaneously in strain C3H/HeSn in the Foundation Stocks at The Jackson Laboratory in 1980 when that inbred was at F90. The stock was maintained by sibling matings of homozygous (bc^3J/bc^3J) females to heterozygous males or by mating heterozygotes. Embryos were generated for cryopreservation in 1981 by intercrossing heterozygotes at generation F12.

Allele

Symbol: Kcnn2^bc-3J
Name: bouncy 3 Jackson
MGI accession ID: MGI:1855967
Generation method: Spontaneous
Marker symbol: Kcnn2
Marker name: potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
Chromosome: 18
Strain of origin: C3H/HeSn
Molecular note: A G-to-A point mutation at coding nucleotide 599/1394/1424 of the transcript (NM_080465/ENSMUST00000066890/NM_001312905) is predicted to result in premature truncation at tryptophan 200/465/475 of the encoded protein (NP_536713:p.W200*, ENSMUSP00000067884:p.W465*, NP_001299834:p.W475*).

Allele

Symbol: Clcc1^m1J
Name: mutation 1, Jackson
MGI accession ID: MGI:5618134
Generation method: Spontaneous
Marker symbol: Clcc1
Marker name: chloride channel CLIC-like 1
Chromosome: 3
Strain of origin: C3H/HeSnJ
Molecular note: The mutation is an intracisternal A-particle (IAP) retrotransposon insertion into a C3H/HeSnJ genomic region. The IAP is inserted into intron 2 of the gene and disrupts the normal splicing of the mRNA transcribed from this gene. Resulting in-frame stop codons from the insertion of IAP sequences resulted in severely reduced protein levels in mutant tissues. The retrotransposition of this IAP is a recent event occurring during, or after, the establishment of the C3H/HeSn substrain.