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Npc1tm1Mbjg
Targeted Allele Detail
Nomenclature
Symbol: Npc1tm1Mbjg
Name: Niemann-Pick type C1; targeted mutation 1, Joseph L Goldstein
MGI ID: MGI:5293759
Synonyms: npc1pf
Gene: Npc1  Location: Chr18:12189693-12236400 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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:176587
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation details
Generation of the Npc1tm1Mbjg allele
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  13 strains or lines available
References
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory