自发突变导致了氨基酸位点由C变为A的替换(g.9:110455454C>A;p.Val55Phe;GRCm38),这指的是在基因序列的9号位置,110,455,454位由CG转换为AA,导致Val55变为Phe,这个变异位置来自J:311444。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Spontaneous
单点
隐性
1
--
2

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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