Hprt1^{tm2.1(CAG-Smpd1)Geno}
Targeted Allele Detail

Summary

• Symbol: Hprt1^{tm2.1(CAG-Smpd1)Geno}
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 2.1, Genoway
• MGI ID: MGI:5521508
• Synonyms: ASM tg
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^{tm2.1(CAG-Smpd1)Geno} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:200864
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Inserted expressed sequence)
• Mutation: Insertion
• Hprt1^{tm2.1(CAG-Smpd1)Geno} expresses 1 gene
  Knock-in expresses:
  

  Organism	Expressed Gene	Note
  mouse	Smpd1 (MGI:98325)

• Mutation details: The construct targeted to the locus contained a ubiquitous CAG promoter, floxed stop cassette and the murine gene. Cre-mediated recombination removed the stop cassette. Enzymatic assay confirmed a greater than 10-fold increase in secretory acid sphingomyelinase activity in cerebrospinal fluid. (J:200864)

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: 1280 strains or lines available

References

• Original: J:200864 Muhle C, et al., Characterization of acid sphingomyelinase activity in human cerebrospinal fluid. PLoS One. 2013;8(5):e62912
• All: 4 reference(s)