这个是在匹兹堡大学进行的筛选中发现的ENU诱发突变。分子异常是cDNA(NM_007989)第3外显子第1133位的A替换为C,导致编码蛋白质的第378位的天冬氨酸被替换为异亮氨酸(p.D378A)。(引用:J:175213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
--
1
7
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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