Slc12a2^sy-ns
Spontaneous Allele Detail

Summary

• Symbol: Slc12a2^sy-ns
• Name: solute carrier family 12, member 2; no syndactylism
• MGI ID: MGI:1857838
• Synonyms: sy-ns
• Gene: Slc12a2 Location: Chr18:58011750-58079893 bp, + strand Genetic Position: Chr18, 32.15 cM
• Alliance: Slc12a2^sy-ns page

Mutation origin

• Strain of Origin: MK/ReJ x C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: Nucleotide insertion at position 2955 located in exon 21 causes a frameshift and a premature stop codon. (J:56631)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 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 Slc12a2 Mutation: 58 strains or lines available

Notes

This allele fails to complement the sy locus but does complement the fused plalanges alleles. Therefore, the original sy deletion includes both the gene responsible for deafness (Slc12a2) and the gene responsible for abnormal foot morphology.

References

• Original: J:50578 Johnson KR, et al., The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome. 1998 Nov;9(11):889-92
• All: 2 reference(s)