The G variant (C on negative gene strand) of SNP rs13474321 is the major wild-type variant, coding for arginine at codon 187, found in the majority of strains. Most C57 strains like C57BL/6J and C57BL/6NJ plus C58 have the deleterious A variant, (T on gene strand) that codes for a stop codon at position 187. (J:84898)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
multiple strains
Spontaneous
Single point
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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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