Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Npc1tm1.1Apl
Name:	NPC intracellular cholesterol transporter 1; targeted mutation 1.1, Andrew P Lieberman
MGI ID:	MGI:4431252
Synonyms:	Npc1flox
Gene:	Npc1  Location: Chr18:12322749-12369457 bp, - strand  Genetic Position: Chr18, 6.15 cM
Alliance:	Npc1tm1.1Apl page

Germline Transmission:	Earliest citation of germline transmission: J:157113
Parent Cell Line:	Bruce 4 (ES Cell)
Strain of Origin:	B6.Cg-Thy1a

Allele Type:    Targeted (Conditional ready, No functional change) Mutation:    Insertion   Mutation details: Exon 9 was floxed. An frt-flanked neo cassette inserted downstream of exon 9 was removed by flp mediated recombination. (J:157113)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	72 strains or lines available

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:	6 reference(s)