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Eportm1.3Jtp
Targeted Allele Detail
Summary
Symbol: Eportm1.3Jtp
Name: erythropoietin receptor; targeted mutation 1.3, Josef T Prchal
MGI ID: MGI:2386096
Synonyms: mthEPORflox-neo(arrow), mthEPORneo
Gene: Epor  Location: Chr9:21870193-21874802 bp, - strand  Genetic Position: Chr9, 7.93 cM
Alliance: Eportm1.3Jtp page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67205
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprt1b-m3
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Intragenic deletion
 
Eportm1.3Jtp expresses 1 gene
 
Mutation detailsThis 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. (J:67205)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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 Epor Mutation:  27 strains or lines available
Notes

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.

References
Original:  J:67205 Divoky V, et al., Mouse model of congenital polycythemia: Homologous replacement of murine gene by mutant human erythropoietin receptor gene. Proc Natl Acad Sci U S A. 2001 Jan 30;98(3):986-91
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory