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Smpd1tm1Wst
Targeted Allele Detail
Nomenclature
Symbol: Smpd1tm1Wst
Name: sphingomyelin phosphodiesterase 1, acid lysosomal; targeted mutation 1, Wilhelm Stoffel
MGI ID: MGI:2183207
Synonyms: ASM-, asmase-
Gene: Smpd1  Location: Chr7:105554360-105558388 bp, + strand  Genetic Position: Chr7, 55.9 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:26748
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe gene was disrupted at codon 370 by insertion of a neomycin resistance cassette into exon 3 via homologous recombination. Absence of gene expression in homozygous mutant animals was demonstrated by Northern blot analysis of liver, spleen, and brain tissues using the full cDNA sequence as a probe. No enzyme activity was detectable in total protein extracts of liver, spleen, and brain from homozygous mutants. (J:26748)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Smpd1 Mutation:  1 strain or line available
References
Original:  J:26748 Otterbach B, et al., Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). Cell. 1995 Jun 30;81(7):1053-61
All:  7 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory