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EN
ENU treatment caused a T-to-A substitution in exon 10, changing isoleucine codon 318 (ATC) to asparagine (AAC) (c.953T>A, p.I318N). The encoded amino-acid is a highly conserved residue of the C2B protein domain and immunohistochemistry of the cochlea fails to detect this protein. (J:125960)
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
