在第一个编码外显子(Exon 2)的一个G到T的转换变异,导致蛋白质中第15位的Valine被Glycine替换,这是一种非保守的替换。(来源:J:46338)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(102/El x C3H/HeEl)F1
Chemically induced
单点
显性
1
3
5

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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