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| Nomenclature |
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Symbol:
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Npc1tm1Mbjg
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Name:
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Niemann Pick type C1;
targeted mutation 1, Joseph L Goldstein
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MGI ID: |
MGI:5293759 |
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Synonyms: |
npc1pf |
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Gene:
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Npc1
Location:
Chr18:12189693-12236400 bp, - strand
Genetic Position: Chr18,
6.15 cM
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Loss of Purkinje cells in the cerebellum and presence of foam cells in the liver and spleen of Npc1tm1Mbjg/Npc1tm1Mbjg mice
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:176587
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Parent Cell Line:
| SM1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A floxed pgk-neo cassette was inserted in intron 4 and point mutations were introduced into exon 5 (resulting in P202A and F203A substitutions) via homologous recombination. Livers from homozygous mice show increased expression of the mutant mRNA and protein compared to endogenous gene expression in wild-type controls. Subcellular localization of the mutant protein is similar to wild-type. (J:176587)
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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 Npc1 Mutation:
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13 strains or lines available |
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| References |
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Original: |
J:176587
Xie X et al.,
"Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice."
Proc Natl Acad Sci U S A 2011 Sep 13;108(37):15330-5
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All: |
1 reference(s)
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Analysis Tools
