Npc2tm1Plob
Targeted Allele Detail
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| 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
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| Alliance: |
Npc2tm1Plob page
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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.
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutation: |
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Insertion
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Mutation details: As 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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View phenotypes and curated references for all genotypes (concatenated display).
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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
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| Carrying any Npc2 Mutation: |
23 strains or lines available
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| 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) |
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Analysis Tools
