Esr1^tm1Arnal
Targeted Allele Detail

Summary

• Symbol: Esr1^tm1Arnal
• Name: estrogen receptor 1 (alpha); targeted mutation 1, Jean-Francois Arnal
• MGI ID: MGI:3833893
• Synonyms: ERalphaAF-1⁰
• Gene: Esr1 Location: Chr10:4561989-4955633 bp, + strand Genetic Position: Chr10, 2.03 cM
• Alliance: Esr1^tm1Arnal page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144952
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: 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. (J:144952)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Esr1 Mutation: 68 strains or lines available

References

• Original: J:144952 Billon-Gales A, et al., The transactivating function 1 of estrogen receptor alpha is dispensable for the vasculoprotective actions of 17beta-estradiol. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):2053-8
• All: 11 reference(s)