| Primary Identifier | MGI:2386096 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Epor |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd-Hprt1<b-m3> |
| Is Recombinase | false | Is Wild Type | false |
| description | Heterozygous mice (Epor+/Eportm1.3Jtp) of this genotype possess one copy of the wild-type mouse allele and one copy of the mutated human gene containing a floxed neomycin cassette. Homozygous mice (Eportm1.3Jtp/Eportm1.3Jtp) of this genotype possess two copies of the mutated human gene containing a floxed neomycin cassette. Expresion analysis revealed that the gene was silenced, probably as a result of the retention of the neomycin cassette. |
| molecularNote | This allele is a derivative of Eportm1Jtp in which an exchange targeting vector was used to replace the PGK-Hprt minigene. The exchange vector contains a mutated sequence of the human gene from the translational start site to the stop codon mutation, and a floxed PGK-neomycin resistance cassette inserted in reverse orientation into intron 6. The human sequence carrying a C5964G transversion mutation in exon 8 was subcloned from cDNA from polycythemia patients. |
