Hprt1^{tm2(CAG-Ppp1r3c)Jjg}
Targeted Allele Detail

Summary

• Symbol: Hprt1^{tm2(CAG-Ppp1r3c)Jjg}
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 2, Joan J Guinovart
• MGI ID: MGI:5618922
• Synonyms: PTG^OE
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^{tm2(CAG-Ppp1r3c)Jjg} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210491
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Inserted expressed sequence)
• Mutation: Insertion
• Hprt1^{tm2(CAG-Ppp1r3c)Jjg} expresses 1 gene
  Knock-in expresses:
  

  Organism	Expressed Gene	Note
  Not Specified	Ppp1r3c

• Mutation details: The CAG promoter and a cDNA encoding Ppp1r3c were inserted in the locus via homologous recombination. (J:210491)

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: 1273 strains or lines available

References

• Original: J:210491 Duran J, et al., Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. Hum Mol Genet. 2014 Jun 15;23(12):3147-56
• All: 6 reference(s)