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Targeted Allele Detail
Symbol: Npc2tm1Plob
Name: Niemann-Pick type C2; targeted mutation 1, Peter Lobel and David Sleat
MGI ID: MGI:3044774
Synonyms: NPC2-
Gene: Npc2  Location: Chr12:84754560-84773112 bp, - strand  Genetic Position: Chr12, 39.37 cM
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
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)
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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:  8 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:  10 reference(s)

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