Smpd1^tm1Wst
Targeted Allele Detail

Summary

• Symbol: Smpd1^tm1Wst
• Name: sphingomyelin phosphodiesterase 1, acid lysosomal; targeted mutation 1, Wilhelm Stoffel
• MGI ID: MGI:2183207
• Synonyms: ASM^-, asmase^-
• Gene: Smpd1 Location: Chr7:105203567-105207596 bp, + strand Genetic Position: Chr7, 55.9 cM
• Alliance: Smpd1^tm1Wst page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 22 strains or lines 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)