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Spontaneous Allele Detail
Symbol: Npc1spm
Name: NPC intracellular cholesterol transporter 1; sphingomyelinosis
MGI ID: MGI:1857051
Synonyms: spm
Gene: Npc1  Location: Chr18:12189692-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Strain of Origin:  C57BLKS/J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThis spontaneous mutation is an A to C substitution in the third base pair of intron 19, which destroys the splice donor site, leading to the retention of 43 intronic bases 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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Npc1 Mutation:  17 strains or lines available
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
All:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory