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The human ESR1 gene carrying a natural deletion of exon 3 due to alternative splicing was used as the transgene. 200 kb of truncated rat Bglap promoter sequences was used to drive expression of the transgene. The promoter truncation results in loss of tissue-specific expression, therefore expression of the transgene is found in most tissues. The exon 3 deletion results in a dominant negative form of the protein lacking the second zinc finger of the DNA-binding domain, and acts as a repressor of ESR1. (J:77730)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
