Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Slc12a6gaxp Name: solute carrier family 12, member 6; giant axonopathy MGI ID: MGI:2675598 Gene: Slc12a6  Location: Chr2:112096659-112193508 bp, + strand  Genetic Position: Chr2, 56.99 cM Alliance: Slc12a6gaxp page

Pale eosinophilic vacuoles in Slc12a6gaxp/Slc12a6gaxp deep cerebellar nucleus Show the 3 phenotype image(s) involving this allele.

Strain of Origin:

C3H/HeSnJ

Allele Type:    Spontaneous Mutation:    Intragenic deletion   Mutation details: 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. (J:136097) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Slc12a6 Mutation:	120 strains or lines available

Original:	J:82451 Harris BS, et al., Giant axonopathy(gaxp), a new spontaneous neuromuscular mutation on Chromosome 2 in the mouse. Mouse Mutant Resources Web Site, The Jackson Laboratory, Bar Harbor, Maine. MGI Direct Data Submission. 2003;
All:	2 reference(s)