一种由G变A的密码子185位的甘氨酸到精氨酸的替换突变(p.G185R),已被关联到所描述的表型。这种突变影响了编码蛋白中的一个关键跨膜段。(来源:J:42052)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x DBA/2J)F2
Spontaneous
单点
隐性
1
2
21

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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