Slc12a6^gaxp
Spontaneous Allele Detail

Summary

• Symbol: Slc12a6^gaxp
• 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: Slc12a6^gaxp page

Pale eosinophilic vacuoles in Slc12a6^gaxp/Slc12a6^gaxp deep cerebellar nucleus

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3H/HeSnJ

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)