C3HeB/FeJLe a/a-gnd/J

Stock number: 001886
Product name: generalized neuroaxonal dystrophy
Research areas: Neurobiology Research

Description

These mice carry the spontaneous gnd mutation and are characterized by dystrophic axons of the nervous system.

Detailed description

Mice homozygous for the generalized neuroaxonal dystrophy spontanteous mutation (gnd) have large numbers of dystrophic axons in all white matter funiculi and in central grey matter at all levels of the spinal cord. Dystrophic axons also common throughout the brain stem. In the forebrain, some can be seen in the optic nerves and tracts, corpus callosum, rostral commissure, and fornix. Mutant mice are identifiable between 2 and 3 weeks of age by their small size, dull fur, and nervous behavior. Adults are smaller than littermates and have a humped back and slender torso. They walk with a shaky gait and restricted hip movement. Hindlimbs paralyzed by 8 months of age. They rarely breed.

Development

The generalized neuroaxonal dystrophy mutation (gnd) arose spontaneously on the agouti C3H/HeJ inbred background at The Jackson Laboratory in 1982, when that inbred was at generation F175. This mutation was maintained via homozygous ovarian transplant into nonagouti C3FeLe.B6-a/J then bred to C3FeLe.B6-a/J males. In this way the offspring that derived from any residual host oocytes could be eliminated based on black coat color and the obligate heterozygous agouti offspring were then intercrossed to generate homozygous females for ovarian transplantation. The strain was maintained via this ovarian transplant backcross-intercross method for over a decade. In 1998 sperm was cryopreserved from homozygous and heterozygous males at backcross generation N24.

Allele

Symbol: gnd
Name: generalized neuroaxonal dystrophy
MGI accession ID: MGI:1856605
Generation method: Spontaneous
Marker symbol: gnd
Marker name: generalized neuroaxonal dystrophy
Chromosome: UN
Strain of origin: C3H/HeJ

Allele

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Marker synonyms: agouti; agouti signal protein; AGSW; AGTI; AGTIL; As; ASP; SHEP9
Chromosome: 2
Strain of origin: old mutant of the mouse fancy
Molecular note: Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039