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A T to A transversion was identified in the splicing donor site of exon 2. As a result of this change, splice varients a and b are absent. A modified splice variant c in which exon 1 is spliced directly to exon 3 rather than into exon 2, is found in the inner ear and testes. (J:103243)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
