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| Nomenclature |
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Symbol:
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Npc2tm1Plob
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Name:
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Niemann Pick type C2;
targeted mutation 1, Peter Lobel and David Sleat
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MGI ID: |
MGI:3044774 |
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Synonyms: |
NPC2- |
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Gene:
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Npc2
Location:
Chr12:84754560-84773112 bp, - strand
Genetic Position: Chr12,
39.37 cM
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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 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:89617
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutation: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Npc2 Mutation:
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8 strains or lines available |
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| References |
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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
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All: |
8 reference(s)
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Analysis Tools
