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Eportm2Jni
Targeted Allele Detail
Summary
Symbol: Eportm2Jni
Name: erythropoietin receptor; targeted mutation 2, James N Ihle
MGI ID: MGI:2388346
Synonyms: Epor-HM, EporHM, HM
Gene: Epor  Location: Chr9:21870193-21874802 bp, - strand  Genetic Position: Chr9, 7.93 cM
Alliance: Eportm2Jni page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:70036
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was truncated by replacement of exon 8 sequences encoding the distal half of the cytoplasmic domain with a neomycin resistance cassette. A tyrosine to phenylalanine substitution at residue 343 (Y343F) was also introduced. Expression of the mutant allele was confirmed by RT-PCR analysis of bone marrow RNA from homozygous mutant animals. Sequence analysis of RT-PCR products verified the presence of the Y343F amino acid substitution. (J:70036)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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
References
Original:  J:70036 Zang H, et al., The distal region and receptor tyrosines of the Epo receptor are non-essential for in vivo erythropoiesis. EMBO J. 2001 Jun 15;20(12):3156-66
All:  11 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