B6.Cg-Uchl1^gad-2J/GrsrJ

Stock number: 013110
Product name: gracile axonal dystrophy 2 Jackson
Research areas: Neurobiology Research

Description

Mutant mice exhibit hind limb atrophy and a progressive decrease in body weight leading to paralysis and premature death.

Detailed description

Homozygotes are normal in appearance until 6 or 7 weeks of age when weakness of the hindlimbs begins to present through limb grasping or dragging or splaying of the hindlimbs when walking. A progressive decrease in body weight begins at 12 weeks of age and the hind limb atrophy progresses to paralysis and premature death. Homozygotes are not able to breed.

Development

The gracile axonal dystrophy 2 Jackson mutation arose spontaneously on WCB6F1 Kitl^Sl/Kitl^Sl-d in 2005 and was made congenic on the C57BL/6J background by 7 cycles of ovarian transplant backcross-intercross breeding after which the strain has been maintained by breeding a homozygous ovarian transplant host to a +/? sibling of the ovary donor then intercrossing the obligate heterozygous offspring.

Allele

Symbol: Uchl1^gad-2J
Name: gracile axonal dystrophy 2 Jackson
MGI accession ID: MGI:4458326
Generation method: Spontaneous
Marker symbol: Uchl1
Marker name: ubiquitin carboxy-terminal hydrolase L1
Marker synonyms: HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5; PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1
Chromosome: 5
Strain of origin: (WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J
Molecular note: A single C-to-A point mutation was identified in exon 4, causing a change of alanine codon 96 to glutamic acid (p.A98E).