C3H/HeSnJ-Slc12a6^gaxp/GrsrJ

Stock number: 004683
Product name: giant axonopathy
Research areas: Neurobiology Research

Description

These mice carry a spontaneous mutation at the Slc12a6 locus characterized by ataxia of the hind legs.

Detailed description

Giant axonopathy (gaxp) is an autosomal recessive mutation that arose spontaneously in the Mouse Mutant Resource colony at The Jackson Laboratory. It occurred in a strain bearing another mutation on the C3H/HeDiSnJ background. Homozygous mutants exhibit ataxia of the hind legs with a slight side - to - side wobble. Histopathologic studies showed pale staining, vacuolated structures measuring between 20 and 150 micra in deep cerebellar nuclei, pons, lateral vestibular nuclei and dorsal root and trigeminal ganglia. Ultrastructurally these structures were often bounded by a few layers of myelin, suggesting that they are swollen axons. gaxp has been mapped to Chromosome 2. The most likely gene order places the mutation between D2Mit128 and D2Mit102 in 174 meioses tested.

Development

The giant axonopathy mutation arose spontaneously on the C3H/HeDiSn-Kitl^Sl-18J/J strain in 1996 and has been kept on the C3H/HeDiSn background by inbreeding heterozygote and homozygote siblings without the steel mutation. In 2009 this strain reached generation F59.

Allele

Symbol: Slc12a6^gaxp
Name: giant axonopathy
MGI accession ID: MGI:2675598
Generation method: Spontaneous
Marker symbol: Slc12a6
Marker name: solute carrier family 12, member 6
Marker synonyms: ACCPN; CMT2II; gaxp; KCC3; KCC3A; KCC3B
Chromosome: 2
Strain of origin: C3H/HeSnJ
Molecular note: This spontaneous mutation arose at The Jackson Laboratory. A 17 bp deletion in exon 4 was detected through sequence analysis. Western blot analysis indicated that no detectable protein product is expressed in kidney and brain tissues.