这个是在慕尼黑的全基因组ENU隐性突变筛选项目中发现的。基因定位确认了29号内含子一个碱基对的替换,从T36351变为C36351,发生在转录起始点的剪接捐赠位点,导致了翻译框架的移位,增加了16个新的氨基酸在羧基端,并产生了一个早终止密码子。(来源:J:234038)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3HeB/FeJ
Chemically induced
单点
隐性
1
3
2

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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