Hprt1^{tm372(NR2E1*,bEMS112)Ems}
Targeted Allele Detail

Summary

• Symbol: Hprt1^{tm372(NR2E1*,bEMS112)Ems}
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 372, Elizabeth M Simpson
• MGI ID: MGI:6514883
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^{tm372(NR2E1*,bEMS112)Ems} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:267111
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Hprt1^{tm372(NR2E1*,bEMS112)Ems} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NR2E1 (7101)

  Nr2e1

  (MGI:1100526)

• Mutation details: A modified BAC from the RPCI-11 library containing the human NR2E1 gene with a single-base pair candidate regulatory variant, a C to G at position 14122 (p.R274G), was inserted into the Hprt1 locus. This newly modified BAC is termed bEMS112. (J:267111)

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 Hprt1 Mutation: 1279 strains or lines available

References

• Original: J:267111 Schmouth JF, et al., Modelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencing. PLoS Genet. 2012;8(3):e1002544
• All: 1 reference(s)