Npc1^spm
Spontaneous Allele Detail

Summary

• Symbol: Npc1^spm
• Name: NPC intracellular cholesterol transporter 1; sphingomyelinosis
• MGI ID: MGI:1857051
• Synonyms: spm
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^spm page

Mutation origin

• Strain of Origin: C57BLKS/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• 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, 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

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 72 strains or lines available

References

• 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)