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Targeted Allele Detail
Symbol: Npc2tm1Plob
Name: NPC intracellular cholesterol transporter 2; targeted mutation 1, Peter Lobel and David Sleat
MGI ID: MGI:3044774
Synonyms: NPC2-
Gene: Npc2  Location: Chr12:84801333-84819886 bp, - strand  Genetic Position: Chr12, 39.37 cM
Alliance: Npc2tm1Plob page
Neurodegenerative changes affecting cerebullar Purkinje cells of Npc1m1N/Npc1m1N, Npc2tm1Plob/Npc2tm1Plob, and double homozygous mice for Npc1m1N and Npc2tm1Plob

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

Germline Transmission:  Earliest citation of germline transmission: J:89617
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsAs a result of aberrant recombination, a portion of the targeting vector that was designed to disrupt exon 2 with a floxed neo cassette instead inserted into intron 3. The endogenous exon 2 was left intact and was followed by duplicated regions of intron 1, the vector-derived exon 2 disrupted by the floxed neo cassette, and a duplicated region of intron 2. Sequence analysis identified an additional 24 bp of unknown origin at the site of insertion. This results in significant mis-splicing of the Npc2 mRNA, with ~4% of wild-type levels of correctly spliced message and protein detected by RT-PCR and western blotting, respectively. (J:89617)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 anatomical structures
Tumor Data
List all tumor models in MMHCdb carrying Npc2tm1Plob
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 Npc2 Mutation:  17 strains or lines available
Original:  J:89617 Sleat DE, et al., Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A. 2004 Apr 20;101(16):5886-91
All:  13 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 6.22
The Jackson Laboratory