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

Symbol: Esr1tm3.1Ksk Name: estrogen receptor 1 (alpha); targeted mutation 3.1, Kenneth S Korach MGI ID: MGI:5301452 Synonyms: AF2ERKI Gene: Esr1  Location: Chr10:4561989-4955633 bp, + strand  Genetic Position: Chr10, 2.03 cM Alliance: Esr1tm3.1Ksk page

Uterine abnormalities in Esr1tm3.1Ksk/Esr1tm3.1Ksk mice Show the 3 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:176459
Parent Cell Line:	Other (see notes) (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted Mutations:    Insertion, Nucleotide substitutions   Mutation details: Missense mutations (leucine to alanine) of the first two codons encoding hydrophobic residues were introduced in exon 9, which encodes the AF-2 motif. Previous in vitro studies showed that the disruption of these residues conferred insensitivity to estradiol. Sequence encoding a carboxy terminal histidine epitope tag was also added to allow for detection of the mutant protein. A self-excising floxed neo cassette that was inserted into the 3' untranslated region was excised via cre recombinase. (J:75132, J:176459)

Generation of the Esr1tm3.1Ksk allele

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

In Structures Affected by this Mutation:

6 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Esr1 Mutation:	67 strains or lines available

Original:	J:176459 Arao Y, et al., Estrogen receptor {alpha} AF-2 mutation results in antagonist reversal and reveals tissue selective function of estrogen receptor modulators. Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14986-91
All:	4 reference(s)