这个自发的G到A突变发生在位置5,695,295(GRCm38),导致第293位氨基酸从谷氨酸变为赖氨酸(p.E293K)。(来源:J:175214, J:176116)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK Bdnftm3Jae/J
Spontaneous
单点
隐性
1
--
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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