Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Ethe1tm1.1Zev
Name:	ethylmalonic encephalopathy 1; targeted mutation 1.1, Massimo Zeviani
MGI ID:	MGI:3838184
Gene:	Ethe1  Location: Chr7:24286968-24308350 bp, + strand  Genetic Position: Chr7, 11.66 cM, cytoband A3
Alliance:	Ethe1tm1.1Zev page

Germline Transmission:	Earliest citation of germline transmission: J:146537
Parent Cell Line:	AB1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	19 strains or lines available

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)