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| Nomenclature |
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Symbol:
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Slc12a2sy-ns
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Name:
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solute carrier family 12, member 2;
no syndactylism
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MGI ID: |
MGI:1857838 |
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Synonyms: |
sy-ns |
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Gene:
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Slc12a2
Location:
Chr18:57878678-57946821 bp, + strand
Genetic Position: Chr18,
32.15 cM
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Mutation
origin |
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Strain of Origin:
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MK/ReJ x C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: Nucleotide insertion at position 2955 located in exon 21 causes a frameshift and a premature stop codon. (J:56631)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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.
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
