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Allele : Esr1<tm1Arnal> estrogen receptor 1 (alpha); targeted mutation 1, Jean-Francois Arnal

Primary Identifier  MGI:3833893 Allele Type  Targeted
Attribute String  Modified isoform(s) Gene  Esr1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  441 bp of exon 1 (corresponding to amino acids 2-148) were deleted by homologous recombination. This mutation removed the coding sequence for the entire A domain and for three motifs in the B domain that are associated with the AF-1 transactivation function of the protein product. The deletion left intact the translational initiation codon (ATG) in exon 1 and 20 bp at the 3' extremity of exon 1. Immunoblot analysis of homozygote uterus extracts detected a truncated 49-kD protein product but no full length 66-kD protein product. This mutant protein was predicted to have similar functions as an endogenous 46-kD isoform that is produced in some tissues.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • ERalphaAF-1<0>,
  • ERalphaAF-1<0>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

14 Publication categories

Trail: Allele