A loxP site was inserted into intron 8 and a neomycin resistance gene cassette, a second loxP site and a modified exon 9 were inserted downstream of the gene. The modification entails the change of tyrosine codon 541 (TAT) to serine (TCC) (p.Y541S). This mutation, in the ligand-binding domain (LBD) of the encoded receptor, leads to its constitutive activation and is the equivalent of the human p.Y537S mutation found in endocrine-resistant metastatic tumors. This allele expresses the wildtype transcript. Only after Cre-mediated deletion of the endogenous exon 9 and neo cassette, will the allele express the mutated transcript. (J:303707)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
4
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

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PMID
Journal
Year
IF
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