Female mice homozygous for this mutation exhibit ovaries that lack corpora lutea and hypoplastic uteri that are unresponsive to estrogen. Homozygous males show reduced testis weight associated with diminished sperm count.
Kenneth Korach, LRDT, NIEHS, NIHRead More +
At birth, mice homozygous for the targeted allele are viable and normal in size and appearence. Female mice exhibit ovaries that lack corpora lutea and hypoplastic uteri that are unresponsive to estrogen. In males, below normal testis weight is associated with a diminished sperm count (10% of normal). Homozygous females are infertile. The fertility of homozygous males is greatly reduced, but not abolished.
A targeting vector containing a neomycin resistance gene driven by the mouse phosphoglycerate kinase promoter was used to disrupt the second exon of the targeted gene. A herpes simplex virus thymidine kinase was used for negative selection. The construct was electroporated into 129P2/OlaHsd-derived E14TG2a embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. Correctly targeted ES cells were injected into C57BL/6J blastocysts to obtain chimeric animals. This strain originated on a B6;129P2 background and has been backcrossed to C57BL/6 for ten generations.
|Allele Name||targeted mutation 1, Kenneth S Korach|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||AERKO; ER-alpha-; ER1KO; ERKO; ERa-Neo; ERalpha-; ERalpha-KO; ERalphaKO; ERalphaKOCH; Esr1tm1Unc; Esr1tm1Ksk; alpha-ERKO; alphaERKO|
|Gene Symbol and Name||Esr1, estrogen receptor 1 (alpha)|
|Gene Synonym(s)||AA420328; AU041214; ER; ER-alpha; ER[a]; ERa; ERalpha; ESR; ESRA; ESTRR; Era; Esr; Estr; Estr; Estra; Estra; NR3A1; Nr3a1; RNESTROR; estrogen receptor; estrogen receptor alpha; expressed sequence AA420328; expressed sequence AU041214|
|Strain of Origin||129P2/OlaHsd|
|Molecular Note||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.|
|Mutations Made By|| |
Kenneth Korach, LRDT, NIEHS, NIH
The colony is maintained by mating heterozygous carrier mice. The expected coat color is black.
|Please inquire about possible genotypes.|
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