Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Hprt1tm2.1(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:	Hprt1tm2.1(CAG-Smpd1)Geno page

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

Allele Type:    Targeted (Inserted expressed sequence) Mutation:    Insertion   Hprt1tm2.1(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)

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:	1274 strains or lines available

Original:	J:200864 Muhle C, et al., Characterization of acid sphingomyelinase activity in human cerebrospinal fluid. PLoS One. 2013;8(5):e62912
All:	1 reference(s)