ENU induced a T to C mutation at position 1345 resulting in a tyrosine to histidine substitution at amino acid 449 in exon 13 and is predicted to disrupt transmembrane domain 4. Protein expression is reduced in the type III fibrocytes basal to mid cochlear region in homozygous mice. (J:181985)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
Recessive
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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