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| Nomenclature |
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Symbol:
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Npc1nmf164
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Name:
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Niemann Pick type C1;
neuroscience mutagenesis facility, 164
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MGI ID: |
MGI:2686741 |
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Synonyms: |
Npc1spm-J, sphingomyelinosis Jackson |
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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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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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 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)
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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:87349
JAX Neuroscience Mutagenesis Facility,
"Heritable mouse mutants from JAX NMF ENU Mutagenesis Program"
MGI Direct Data Submission 2004-7;():
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All: |
3 reference(s)
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Analysis Tools
