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This is the major variant of SNP rs13468707 (c.538G>A substitution leading to p.I180V) in exon 6 and codes for the wild-type evolutionary conserved isoleucine. The T variant is found in the 129P2/OlaHsd, 129S1/SvImJ, 129X1/SvJ, 129S5SvEvBrd, BTBR T+ TF/J, C3H/HeJ, CAST/EiJ, CBA/J, LP/J, PWD/PHJ, PWK/PhJ, SPRET/EiJ, and WSB/EiJ strains. This SNP is the equivalent of the well-documented human SNP rs2820949. (J:193532)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
