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This mutation was identified in a hearing screen of C3H/HeH-backcross progeny of an ENU mutagenized (BALB/cAnN x C3H/HeH)F1 mouse and was shown by microsatellite analysis to reside on the BALB/cAnN chromosome. It has been identified as an adenine to thymine transversion at nucleotide position 2942, in exon 17, that results in replacement by valine of a highly conserved aspartic acid at amino acid position 981 (D981V), six amino acids carboxy-terminal of the sixth transmembrane segment of the second domain (D2S6). (J:155726)
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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References Literature
Title
PMID
Journal
Year
IF
