ENU诱变会导致31号外显子两个碱基对的缺失,这导致了移框,使得A、B和S三种形式都受到影响。A形式有46个氨基酸,B和S形式则在提前终止前各有43个新氨基酸。通过E14.5脑组织的 Western blot 分析,确实证实了330 KDa和250 KDa这两种形式的缺失。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
基因内删除
隐性
1
2
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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