这种表型异常是由多剂量乙内酰胺氮芥(ENU)处理后发现的,表现为后肢消瘦、步态异常和震颤。基因序列分析表明,这是一种隐性突变,发生在977位的C到T替换,导致第10号外显子中的丝氨酸变为亮氨酸(S326L)(来源:J:332444)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
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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