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Targeted Allele Detail
Symbol: Npc1tm1Mbjg
Name: NPC intracellular cholesterol transporter 1; targeted mutation 1, Joseph L Goldstein
MGI ID: MGI:5293759
Synonyms: npc1pf
Gene: Npc1  Location: Chr18:12189692-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Loss of Purkinje cells in the cerebellum and presence of foam cells in the liver and spleen of Npc1tm1Mbjg/Npc1tm1Mbjg mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:176587
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA 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. (J:176587)
Generation of the Npc1tm1Mbjg allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 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
Original:  J:176587 Xie X, et al., Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc Natl Acad Sci U S A. 2011 Sep 13;108(37):15330-5
All:  1 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)
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last database update
MGI 6.14
The Jackson Laboratory