C3H/HeJ、A/J、CBA/J、DBA/2J和PWK/PhJ小鼠表现出一个G到C的转换变异(SNP rs13482876),导致第398位氨基酸由谷氨酸替换为谷氨酰胺(p.E398Q)。这种变异在人类的parkin基因中等同于E399Q的变异。大多数小鼠品种,如BALB/c、C57BL/6和129S,编码的都是谷氨酸的G变异型。(来源:J:160271)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H
Spontaneous
单点
--
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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