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Targeted Allele Detail
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
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 detailsMissense 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 structures
Find Mice (IMSR)
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:  45 strains or lines available
ES cells = clone A3 of UG347 ES cells (129S6/SvEvTac)
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
The Jackson Laboratory