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Chemically induced Allele Detail
Symbol: Npc1nmf164
Name: Niemann-Pick type C1; neuroscience mutagenesis facility, 164
MGI ID: MGI:2686741
Synonyms: Npc1spm-J, sphingomyelinosis Jackson
Gene: Npc1  Location: Chr18:12189693-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
Mutation detailsThis 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 results in a A to G transversion (at cDNA bp 3163) in exon 20 of 25 exons, altering the corresponding amino acid from aspartate to glycine at codon 1005 (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
View phenotypes for all genotypes (concatenated display).
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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:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7;
All:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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