Epor^tm2Jni
Targeted Allele Detail

Summary

• Symbol: Epor^tm2Jni
• 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: Epor^tm2Jni 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 details: The 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)

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: 30 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)