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Ndufs4tm1Rpa
Targeted Allele Detail
Nomenclature
Symbol: Ndufs4tm1Rpa
Name: NADH:ubiquinone oxidoreductase core subunit S4; targeted mutation 1, Richard D Palmiter
MGI ID: MGI:3527173
Synonyms: Ndufs4lox
Gene: Ndufs4  Location: Chr13:114287795-114388094 bp, - strand  Genetic Position: Chr13, 64.12 cM, cytoband D2.2
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:134334
Parent Cell Line:  AK18.1 (ES Cell)
Strain of Origin:  129S4/SvJaeSor
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsAn frt-flanked neo cassette with a 5' loxP site was inserted downstream of exon 2 and an additional loxP site was inserted upstream of exon 2. Germ line, flp mediated recombination was used to remove the neo cassette. Exon 2 contains the mitochondrial targeting sequence. (J:134334)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 17 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ndufs4 Mutation:  12 strains or lines available
References
Original:  J:134334 Kruse SE, et al., Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. Cell Metab. 2008 Apr;7(4):312-20
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory