Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Esr1tm1Arnal
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:	Esr1tm1Arnal page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	67 strains or lines available

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)