Npc1^nmf164
Chemically induced Allele Detail

Summary

• Symbol: Npc1^nmf164
• Name: NPC intracellular cholesterol transporter 1; neuroscience mutagenesis facility, 164
• MGI ID: MGI:2686741
• Synonyms: Npc1^spm-J, sphingomyelinosis Jackson
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^nmf164 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen. A noncomplementation test with other Npc1 alleles showed that nmf164 represents an allele of Npc1. The mutation is an A to G transversion at coding nucleoide 3014 (c.3014A>G) in exon 20 of 25 exons, altering the corresponding amino acid from aspartate to glycine at codon 1005 (p.D1005G) in loop I of the protein between the eighth and ninth (of 13) transmembrane domains. Western blot analysis reveals that protein levels reduced to 10-15% of wild type. (J:179744)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 74 strains or lines available

References

• Original: J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7
• All: 22 reference(s)