A single missense mutation was found in exon 13 of the 24-exon gene locus (GenBank accession no. NM_01970). The mutation was an A-to-G transition at nucleotide 2041, predicting the amino acid substitution cysteine for tyrosine (Y496C). This mutation occurs on the C-terminal side of the protease domain. Allelic complementation assays suggest the activity of this hypomorph allele is less than half that of the wild-type allele. (J:94077, J:123123)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
1
2

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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