Ndufs4<tm1.1Rpa> Targeted Allele Detail MGI Mouse (MGI:3793713)

Ndufs4^tm1.1Rpa
Targeted Allele Detail

Summary

Symbol:	Ndufs4^tm1.1Rpa
Name:	NADH:ubiquinone oxidoreductase core subunit S4; targeted mutation 1.1, Richard D Palmiter
MGI ID:	MGI:3793713
Synonyms:	Ndufs4^delta, Ndufs4 KO
Gene:	Ndufs4 Location: Chr13:114424331-114524630 bp, - strand Genetic Position: Chr13, 64.12 cM, cytoband D2.2
Alliance:	Ndufs4^tm1.1Rpa page

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 (Null/knockout)
Mutation:		Intragenic deletion
		Mutation details: Germ line, cre mediated recombination was used to remove exon 2, which contains the mitochondrial targeting sequence. The absence of protein product was confirmed by western blot analysis. (J:134334)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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:	29 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:	57 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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