This chrX:g.66303564A>C mutation (GRCm38 coordinates), which changes codon 126 from phenylalanine to valine (p.F126V), is the minor variant of SNP rs49812516 found in the PWD and PWK strains. (J:292550)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Applicable
Spontaneous
Single point
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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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