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Esr1tm2Ksk
Targeted Allele Detail
Summary
Symbol: Esr1tm2Ksk
Name: estrogen receptor 1 (alpha); targeted mutation 2, Kenneth S Korach
MGI ID: MGI:2385778
Gene: Esr1  Location: Chr10:4561989-4955633 bp, + strand  Genetic Position: Chr10, 2.03 cM
Alliance: Esr1tm2Ksk page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75132
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
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 floxed neo cassette that was inserted into the 3' untranslated region was excised from ES cells via expression of cre recombinase. RT-PCR analysis of RNA isolated from ES cells showed greater amounts of transcript after the expression of cre than prior to it, indicating that presence of neo affected mRNA stability. (J:75132)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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:75132 Swope DL, et al., AF-2 knock-in mutation of estrogen receptor alpha: Cre-loxP excision of a PGK-neo cassette from the 3prime prime or minute UTR. Genesis. 2002 Feb;32(2):99-101
All:  3 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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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory