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_001081213)第4外显子第772位的C转换成了T,导致了密码子772的改变(由C变为T,c.772C>T)。这在编码蛋白质的序列中造成了一个终止密码子,使得第258位的谷氨酰胺被替换为星号(p.Q258*)。(引用:J:175213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
未定义
--
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部