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

Symbol:	Esr1tm1Ksk
Name:	estrogen receptor 1 (alpha); targeted mutation 1, Kenneth S Korach
MGI ID:	MGI:2150897
Synonyms:	AERKO, alphaERKO, alpha-ERKO, ER1KO, ER-alpha-, ERalpha-, ERalphaKO, ERalpha-KO, ERalphaKOCH, ERa-Neo, ERKO, Esr1tm1Ksk, Esr1tm1Unc
Gene:	Esr1  Location: Chr10:4561989-4955633 bp, + strand  Genetic Position: Chr10, 2.03 cM
Alliance:	Esr1tm1Ksk page

Germline Transmission:	Earliest citation of germline transmission: J:16338
Parent Cell Line:	E14TG2a (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Insertion of a PGK-neomycin resistance cassette into exon 2 disrupted the reading frame downstream of the ATG start site. ELISA studies using antibodies to the carboxy terminus detected low concentrations of endogenous protein in uterine tissue from homozygous mutant mice. RT-PCR analysis detected two truncated mutant transcripts in uterine tissue from homozygous mice. Western blot analysis detected a 61 kDa protein in uterine tissue from homozygotes. Transient transfection assays confirmed that this protein retains some transactivation activity in the presence of estradiol. (J:16338, J:105821, J:112080)

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

In Mice Carrying this Mutation:	3 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	42 anatomical structure(s)

List all tumor models in MMHCdb carrying Esr1tm1Ksk

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Esr1 Mutation:	67 strains or lines available

Original:	J:16338 Lubahn DB, et al., Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proc Natl Acad Sci U S A. 1993 Dec 1;90(23):11162-6
All:	288 reference(s)