About   Help   FAQ
Smpd3tm1Wst
Targeted Allele Detail
Nomenclature
Symbol: Smpd3tm1Wst
Name: sphingomyelin phosphodiesterase 3, neutral; targeted mutation 1, Wilhelm Stoffel
MGI ID: MGI:3575405
Synonyms: smpd3-
Gene: Smpd3  Location: Chr8:106252548-106337988 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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:97284
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  5 strains or lines available
References
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/17/2015
MGI 5.21
The Jackson Laboratory