Version: 8.0.0
Date: Tue Jan 28 2025
Npc1tm1Mbjg
MGI:5293759
Allele of Npc1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Npc1tm1Mbjg

Species
Mus musculus
Symbol
Npc1tm1Mbjg
Category
allele
Allele of gene
Npc1
Transgenic Constructs
None
Synonyms
  • npc1pf
Description
A loxP site flanked neomycin resistance gene cassette was inserted into intron 4 and point mutations were introduced into exon 5, resulting in the substitution of proline 202 and phenylalanine 203 with alanines (p.(P202_F203delinsAA)) in the encoded proetin. Livers from homozygous mice show increased expression of the mutant mRNA and protein compared to endogenous gene expression in wild-type controls. Subcellular localization of the mutant protein is similar to wild-type.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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