这个位于15号染色体GRCm38第101,013,440位的自发C到A的突变导致了第914位氨基酸由arginine变为serine(p.R914S),这个位置位于域2的离子通道区域。(来源:J:199990)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Spontaneous
单点
隐性
1
11
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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