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Esr1tm2.1Gsc
Targeted Allele Detail
Summary
Symbol: Esr1tm2.1Gsc
Name: estrogen receptor 1 (alpha); targeted mutation 2.1, Gunther Schutz
MGI ID: MGI:4361324
Synonyms: ERalphaEAAE
Gene: Esr1  Location: Chr10:4561989-4955633 bp, + strand  Genetic Position: Chr10, 2.03 cM
Alliance: Esr1tm2.1Gsc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:152849
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitutions resulted in amino acid substitutions of glutamic acid for tyrosine at position 201 (Y201E), alanine for lysine at position 210 (K210A), alanine for lysine at position 214 (K214A), and glutamic acid for arginine at position 215 (R215E). A floxed neo cassette used for selection was removed by transient cre expression in ES cells. The mutated amino acids are a part of the DNA recognition helix. (J:152849)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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
References
Original:  J:152849 Ahlbory-Dieker DL, et al., DNA binding by estrogen receptor-alpha is essential for the transcriptional response to estrogen in the liver and the uterus. Mol Endocrinol. 2009 Oct;23(10):1544-55
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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory