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| Nomenclature |
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Symbol:
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Smpd1tm1Wst
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Name:
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sphingomyelin phosphodiesterase 1, acid lysosomal;
targeted mutation 1, Wilhelm Stoffel
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MGI ID: |
MGI:2183207 |
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Synonyms: |
ASM-, asmase- |
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Gene:
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Smpd1
Location:
Chr7:105554360-105558388 bp, + strand
Genetic Position: Chr7,
55.9 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:26748
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: The 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Smpd1 Mutation:
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1 strain or line available |
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
