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Allele : Esr1<tm1Mul> estrogen receptor 1 (alpha); targeted mutation 1, William J Muller

Primary Identifier  MGI:7529798 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence Gene  Esr1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • ESR1<Y541S>,
  • ESR1<Y541S>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories