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| Nomenclature |
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Symbol:
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Mcoln1tm1Sasl
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Name:
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mucolipin 1;
targeted mutation 1, Susan A Slaugenhaupt
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MGI ID: |
MGI:3794204 |
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Gene:
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Mcoln1
Location:
Chr8:3500457-3515232 bp, + strand
Genetic Position: Chr8,
1.92 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:135368
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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C57BL/6 x 129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 3, 4 and part of exon 5 were replaced with a neo cassette. The absence of transcript was confirmed by RT-PCR on brain extracts. (J:135368)
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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 Mcoln1 Mutation:
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2 strains or lines available |
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Notes |
ES cell line = LC3, which carries GFP.
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| References |
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Original: |
J:135368
Venugopal B et al.,
"Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV."
Am J Hum Genet 2007 Nov;81(5):1070-83
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All: |
3 reference(s)
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Analysis Tools
