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ENU induced a G to T mutation at position 1661 resulting in a tryptophan to leucine substitution at amino acid 554 in exon 15 and is predicted to alter protein folding. Protein expression is reduced in the type III fibrocytes basal to mid cochlear region but increased in the apical region in homozygous mice. (J:181985)
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
