About   Help   FAQ
Npc1tm1.1Dso
Targeted Allele Detail
Nomenclature
Symbol: Npc1tm1.1Dso
Name: NPC intracellular cholesterol transporter 1; targeted mutation 1.1, Daniel Ory
MGI ID: MGI:5641735
Synonyms: Npc1I1061T, Npc1tm(I1061TDso
Gene: Npc1  Location: Chr18:12189692-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:221855
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA loxP site was inserted into intron 13, and an FRT-flanked neomycin resistance cassette followed by a second loxP site into intron 20. A c.3179T>C point mutation was introduced in exon 21 at codon 1060, resulting in an isoleucine to threonine substitution (p.I1060T) in the encoded protein that mimics the I1061T mutation commonly found in humans with Niemann-Pick type C1 (NPC1) disease. Flp-mediated recombination removed the neo cassette leaving exons 14-20 floxed. (J:221855)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Npc1 Mutation:  17 strains or lines available
References
Original:  J:221855 Praggastis M, et al., A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele. J Neurosci. 2015 May 27;35(21):8091-106
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/08/2019
MGI 6.14
The Jackson Laboratory