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| Nomenclature |
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Symbol:
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Smpd3tm1Wst
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Name:
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sphingomyelin phosphodiesterase 3, neutral;
targeted mutation 1, Wilhelm Stoffel
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MGI ID: |
MGI:3575405 |
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Synonyms: |
smpd3- |
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Gene:
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Smpd3
Location:
Chr8:106252548-106337988 bp, - strand
Genetic Position: Chr8,
53.12 cM, cytoband D2
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Growth retardation and deformations of the Smpd3tm1Wst/Smpd3tm1Wst skeleton
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:97284
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Parent Cell Line:
| CJ7 (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: Exon 1 was interrupted by the insertion of a PGK-neo cassette. Exon 1 encodes the two putative transmembrane domains and part of the catalytic site of the protein. Northern blot of brains from mutants demonstrated the lack of wild-type transcript. Western blot of brain protein extract from mutants confirms absence of protein. (J:97284)
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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 Smpd3 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:97284
Stoffel W et al.,
"Neutral sphingomyelinase 2 (smpd3) in the control of postnatal growth and development."
Proc Natl Acad Sci U S A 2005 Mar 22;102(12):4554-9
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All: |
2 reference(s)
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Analysis Tools
