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Most mouse strains, including BALB/c, C57BL/6, and 129S, have this G variant of SNP rs13482876 coding for glutamic acid at position 398. C3H/HeJ, A/J, CBA/J, DBA/2J and PWK/PhJ mice exhibit a G-to-C transversion that results in an amino acid substitution of glutamic acid with glutamine at position 398 (p.E398Q). That mutation is synonymous with the E399Q mutation observed in human parkin. (J:160271)
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
