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

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

Germline Transmission:	Earliest citation of germline transmission: J:75132
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

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 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)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	67 strains or lines available

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)