Smpd1^tm1Esc
Targeted Allele Detail

Summary

• Symbol: Smpd1^tm1Esc
• Name: sphingomyelin phosphodiesterase 1, acid lysosomal; targeted mutation 1, Edward H Schuchman
• MGI ID: MGI:2183206
• Synonyms: ASM^-, ASMase-, ASMKO, ASMKO^-
• Gene: Smpd1 Location: Chr7:105203567-105207596 bp, + strand Genetic Position: Chr7, 55.9 cM
• Alliance: Smpd1^tm1Esc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:26732
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A PGK-neo cassette was inserted into exon 2 facing the opposite orientation via homologous recombination. No detectable enzyme activity was present in any of the tissues examined from homozygous mutant animals. (J:26732)

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: 23 strains or lines available

References

• Original: J:26732 Horinouchi K, et al., Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet. 1995 Jul;10(3):288-93
• All: 105 reference(s)