在exon 4插入了一点突变,将阿尔法474的Alanine替换为Threonine(p.A474T)。通过Cre介导的重组,去除了内含子3中的loxP标记的Neomycin抗性基因元件。这种突变导致GRE介导的转录激活异常,并阻止了二聚体形成。(来源:J:67720, J:121199)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion, Nucleotide substitutions
--
1
2
40

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
No Data Found!
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