ENU mutagenesis induced a G to T transversion in exon 3 at nt 470 (NM_009470), leading to an amino acid substitution of cysteine to phenylalanine at position 93 (C93F). Mutant protein levels are elevated in kidneys of heterozygous mice. This protein is predominantly the immature form. (J:201084)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3HeB/FeJ
Chemically induced
Single point
Dominant
1
1
5

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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