ENU诱导在743位和803位发生了两个C到A的转换,导致丝氨酸变为赖氨酸,脯氨酸变为谷氨酰胺。蛋白在远端肺上皮细胞中表达,但在体外与Nubp2的交互作用被干扰。(来源:J:191793)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
核苷酸替换
隐性
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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