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Ethe1tm1.1Zev
Targeted Allele Detail
Nomenclature
Symbol: Ethe1tm1.1Zev
Name: ethylmalonic encephalopathy 1; targeted mutation 1.1, Massimo Zeviani
MGI ID: MGI:3838184
Gene: Ethe1  Location: Chr7:24587543-24608925 bp, + strand  Genetic Position: Chr7, 11.66 cM, cytoband A3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:146537
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
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
Carrying any Ethe1 Mutation:  5 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory