B6;CByJ-Usp14^nmf375/J

Stock number: 005750
Strain synonyms: NMF375
Research areas: Neurobiology Research

Description

These mice carry an ENU-induced mutation and exhibit abnormal hind limb movement.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

 

Detailed description

The hind limbs of mutants appear to be weak, lag behind during movement or show intermittent spasms, which may extend or contract the leg; front limbs might also show intermittent spasms. When picked up by their tail, the hind limbs of these mutants remain together. These mutants are also smaller than their unaffected littermates, and their hind quarters can appear wasted. The phenotype becomes apparent at 3 weeks of age (average, +/- 0.5 weeks; n=34). Brain and spinal cord histology performed on four mutants (40, 80, 86 or 113 days of age) showed dystrophic axons in the spinal cord of the youngest, and degeneration of the spinal cord white matter and dystrophic axons in the brain stem of the oldest mutant. The colony needs to be maintained through ovarian transplants.

Of note, the strain on the C57BL/6 background is distributed as B6(CBy)-Usp14^nmf375/J (Stock No. 036400).

Development

The nmf375 mutation was identified in the progeny of an ENU mutagenized C57BL/6J male in the neuroscience mutagenesis facility at The Jackson Laboratory. This mutation was maintained by backcross-intercross breeding, crossing a homozygous male to a BALB/cByJ female and then sibling intercrossing the obligate heterozygous offspring. In 2006 sperm was cryopreserved from a heterozygous male that was at generation N3F1.

Allele

Symbol: Usp14^nmf375
Name: neuroscience mutagenesis facility, 375
MGI accession ID: MGI:3622127
Generation method: Chemically induced (ENU)
Attributes: Hypomorph
Synonyms: NMF375
Marker symbol: Usp14
Marker name: ubiquitin specific peptidase 14
Marker synonyms: 2610005K12Rik; 2610037B11Rik; ataxia; ax; dUB-type TGT; nmf375; TGT; Ubp6
Chromosome: 18
Strain of origin: C57BL/6J
Molecular note: ENU mutagenesis induced a T to C transition in position 4 of the splice site donor region of intron 9. Western blot anlaysis confirmed the absence of protein expression in the spinal cord without the detection of truncated proteins. Authors state that this allele is hypomorphic based on phenotypic analysis.