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

Symbol:	Smpd2tm1Wst
Name:	sphingomyelin phosphodiesterase 2, neutral; targeted mutation 1, Wilhelm Stoffel
MGI ID:	MGI:2183203
Synonyms:	nsmase 1-/-
Gene:	Smpd2  Location: Chr10:41363168-41366410 bp, - strand  Genetic Position: Chr10, 22.42 cM
Alliance:	Smpd2tm1Wst page

Germline Transmission:	Earliest citation of germline transmission: J:76664
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 2-8 were replaced with a PGK-neo derived cassette via homologous recombination. Northern blot analysis verified the absence of gene expression in kidney, liver, and brain of homozygous mutant animals. RT-PCR analysis detected a low level of mutant transcripts resulting from the splicing of the neo gene to exon 9. Western blot analysis did not detect protein product in membrane fractions of kidney, liver, and brain from homozygous mutant animals. (J:76664)

View phenotypes and curated references for all genotypes (concatenated display).

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 Smpd2 Mutation:	19 strains or lines available

Original:	J:76664 Zumbansen M, et al., Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. Mol Cell Biol. 2002 Jun;22(11):3633-8
All:	3 reference(s)