Esr1^tm1Ksk
Targeted Allele Detail

Summary

• Symbol: Esr1^tm1Ksk
• Name: estrogen receptor 1 (alpha); targeted mutation 1, Kenneth S Korach
• MGI ID: MGI:2150897
• Synonyms: AERKO, alpha-ERKO, alphaERKO, ER1KO, ER-alpha^-, ERalpha-, ERalpha-KO, ERalphaKO, ERalphaKOCH, ERa-Neo, ERKO, Esr1tm1Ksk, Esr1^tm1Unc
• Gene: Esr1 Location: Chr10:4561989-4955633 bp, + strand Genetic Position: Chr10, 2.03 cM
• Alliance: Esr1^tm1Ksk page

Mutation origin

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

Mutation description

• 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)

Expression

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)

Tumor Data

List all tumor models in MMHCdb carrying Esr1^tm1Ksk

Find Mice (IMSR)

• 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: 68 strains or lines available

References

• 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)