About   Help   FAQ
Esr1tm3.1Ksk
Targeted Allele Detail
Summary
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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:176459
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
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:  68 strains or lines available
Notes
ES cells = clone A3 of UG347 ES cells (129S6/SvEvTac)
References
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory