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

Symbol:	Sgms1tm1Kenw
Name:	sphingomyelin synthase 1; targeted mutation 1, Ken Watanabe
MGI ID:	MGI:4939657
Synonyms:	Sgms1tm1Yo, SMS1-
Gene:	Sgms1  Location: Chr19:32100127-32367114 bp, - strand  Genetic Position: Chr19, 26.68 cM
Alliance:	Sgms1tm1Kenw page

Germline Transmission:	Earliest citation of germline transmission: J:168726
Parent Cell Line:	D3 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 2 was replaced with a neo cassette. The absence of sphingomyelin synthase was confirmed by enzymatic assay. (J:168726)

Generation of the Sgms1tm1Kenw allele

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

In Structures Affected by this Mutation:

5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Sgms1 Mutation:	229 strains or lines available

Original:	J:168726 Yano M, et al., Mitochondrial Dysfunction and Increased Reactive Oxygen Species Impair Insulin Secretion in Sphingomyelin Synthase 1-null Mice. J Biol Chem. 2011 Feb 4;286(5):3992-4002
All:	6 reference(s)