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| Nomenclature |
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Symbol:
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Npc1spm
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Name:
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Niemann Pick type C1;
sphingomyelinosis
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MGI ID: |
MGI:1857051 |
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Synonyms: |
spm |
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Gene:
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Npc1
Location:
Chr18:12189693-12236400 bp, - strand
Genetic Position: Chr18,
6.15 cM
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Mutation
origin |
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Strain of Origin:
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C57BLKS/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: This spontaneous mutation is an A to C substitution in the third base pair of intron 19, which destroys the splice donor site and retains 43 bases into the intron before a cryptic splice site splices to exon 20. The 43 base pair insertion generates a frame shift resulting in 30 novel amino acids followed by a premature termination codon. There is no evidence of wild-type splicing in spm transcripts. (J:179744)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:6833
Miyawaki S et al.,
"Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans."
J Hered 1982 Jul-Aug;73(4):257-63
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All: |
14 reference(s)
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Analysis Tools
