这个等位基因是在对一个冷冻保存的精子库和来自ENU突变项目G1雄性后代的基因组DNA进行筛查时发现的。这种变异发生在第7外显子,由一个T到A的转换导致第336位的天冬氨酸被替换为谷氨酸。(来源:197674)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Chemically induced
单点
--
1
5
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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