Npc1^m1N

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Species

Mus musculus

Symbol

Npc1^m1N

Category

allele

Allele of gene

Npc1

Transgenic Constructs

None

Synonyms

• -^npc
• CSD

Show All 12

Description

824 bp of MaLR retroposon-like DNA replaced 703 bp of wild-type genomic sequence spanning 44 bp of an exon and 659 bp of the downstream intron. The insertion results in premature truncation of the protein deleting 11 out of 13 transmembrane domains. Northern blot analysis revealed marked decrease in gene expression in liver and brain from homozygous mutant animals.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations