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| Nomenclature |
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Symbol:
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Ethe1tm1.1Zev
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Name:
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ethylmalonic encephalopathy 1;
targeted mutation 1.1, Massimo Zeviani
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MGI ID: |
MGI:3838184 |
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Gene:
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Ethe1
Location:
Chr7:24587543-24608925 bp, + strand
Genetic Position: Chr7,
11.66 cM, cytoband A3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:146537
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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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: Exon 4 and an inserted neo cassette were flanked with loxP sites via homologous recombination. Exon 4 and the neo cassette were then deleted via Cre mediated recombination leaving behind a single loxP site. (J:146537)
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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 Ethe1 Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:146537
Tiranti V et al.,
"Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy."
Nat Med 2009 Feb;15(2):200-5
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All: |
1 reference(s)
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Analysis Tools
