Npc1^nmf164

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Species

Mus musculus

Symbol

Npc1^nmf164

Category

allele

Allele of gene

Npc1

Transgenic Constructs

None

Synonyms

• Npc1^spm-J
• sphingomyelinosis Jackson

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations