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Npc1tm1.2Apl
Targeted Allele Detail
Nomenclature
Symbol: Npc1tm1.2Apl
Name: NPC intracellular cholesterol transporter 1; targeted mutation 1.2, Andrew P Lieberman
MGI ID: MGI:4431253
Synonyms: Npc1delta
Gene: Npc1  Location: Chr18:12189693-12236400 bp, - strand  Genetic Position: Chr18, 6.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:157113
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCre mediated recombination removed exon 9. The absence of protein expression was confirmed by western blot analysis on liver extracts. (J:157113)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 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:  44 strains or lines available
References
Original:  J:157113 Elrick MJ, et al., Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration. Hum Mol Genet. 2010 Mar 1;19(5):837-47
All:  3 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
05/15/2018
MGI 6.12
The Jackson Laboratory