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Targeted Allele Detail
Symbol: Smpd3tm1Wst
Name: sphingomyelin phosphodiesterase 3, neutral; targeted mutation 1, Wilhelm Stoffel
MGI ID: MGI:3575405
Synonyms: smpd3-
Gene: Smpd3  Location: Chr8:106979180-107064597 bp, - strand  Genetic Position: Chr8, 53.12 cM, cytoband D2
Growth retardation and deformations of the Smpd3tm1Wst/Smpd3tm1Wst skeleton

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:97284
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsExon 1 was interrupted by the insertion of a PGK-neo cassette. Exon 1 encodes the two putative transmembrane domains and part of the catalytic site of the protein. Northern blot of brains from mutants demonstrated the lack of wild-type transcript. Western blot of brain protein extract from mutants confirms absence of protein. (J:97284)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 9 anatomical structures
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 Smpd3 Mutation:  17 strains or lines available
Original:  J:97284 Stoffel W, et al., Neutral sphingomyelinase 2 (smpd3) in the control of postnatal growth and development. Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4554-9
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory