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| Nomenclature |
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Symbol:
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Smpd1tm1Esc
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Name:
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sphingomyelin phosphodiesterase 1, acid lysosomal;
targeted mutation 1, Edward H Schuchman
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MGI ID: |
MGI:2183206 |
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Synonyms: |
ASM-, ASMase-, ASMKO, ASMKO- |
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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:26732
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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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: 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)
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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: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
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All: |
59 reference(s)
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Analysis Tools
