ENU诱导在545位点产生了一个A到G的突变,导致第182位的酪氨酸替换为 cysteine,发生在exon 13。这个改变预测会破坏膜段1。在同源性小鼠中,基底到中耳部分的III型纤维细胞的蛋白表达降低了。(来源:J:181985)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
单点
隐性
1
8
1

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

References Literature

Title
PMID
Journal
Year
IF
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