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

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H
Spontaneous
Single point
--
1
8
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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