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Mouse Strain information

APB ID

5385

Added

14/01/2011

Last Edited

02/05/2019

Strain nomenclature:

B6;129P2-Ndufs6Gt(AR0138)Wtsi/MrchApb

Nickname:

WOMBAT ; Ndufs6gt/+

Strain designation name:

B6;129P2-Ndufs6Gt(AR0138)Wtsi/MrchApb

Genetics

Genetic Details

Gene trap

ES Cell-Line Used

AR0138

Mode of Inheritance

Recessive

1. Affected Gene Name: NADH dehydrogenase (ubiquinone) Fe-S protein 6

Chromosome	13
Affected Gene Symbol	Ndufs6
Protein expression of altered gene:	Reduced
Genetic alteration of gene:	A beta-galactosidase-neomycin resistance cassette was inserted into intro 2. Vector:pGT0lxr
Location on chromosome (bp):	73457286-73465990 bp, - strand (From VEGA annotation of NCBI Build 37)
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:107932
Synonyms	IP13
Allele Name	NADH dehydrogenase (ubiquinone) Fe-S protein 6; gene trap AR0138, Wellcome Trust Sanger Institute
Allele Symbol	Ndufs6Gt(AR0138)Wtsi
MGI Allele Accession ID	MGI:4346527

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Ndufs6gt/gt mice are fertile. For the first 4 months of life, Ndufs6gt/gt mice have no overt phenotype, with normal weight gain and survival. After 4 months of age, Ndufs6gt/gt mice develop cardiac hypertrophy, which can lead to sudden weight loss, lethargy and death. Ndufs6gt/gt males are more severely affected than females.

Phenotype Heterozygous State

Normal

Original Genetic Background

129P2/OlaHsd x C57BL/6N

Genetic Background Currently Maintained

129P2/OlaHsd x C57BL/6N

Strain identification

How is this strain characterised?

Genotyping

Fertility and Strain maintenance

Fertility and Strain maintenance

	Female	Male
Are homozygous mice viable?	Yes	Yes
Are homozygous mice fertile?	Yes	Yes
*Are heterozygotes / hemizygotes fertile?**	Yes	Yes
* Hemizygote as used here refers to males carring a mutation on the X chromosome or mice of either sex carrying an inserted transgene with no homologous allele on the other chromosome.
Sib-Mated Generations	11
Mating Scheme	heterogygote X heterozygote
Homozygous Matings Required?	No
Male Fertility Compromised?	No
Average Number of Pups at Birth	6.0
Average Number of Pups Surviving to Weaning	5.0
Breeding Performance	Good
Special Husbandry Requirements	For the homozygous mouse, the mouse is weighed weekly once the genotype is confirmed at around 4 to 6 weeks.

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Other Patent Technologies?

Associated IP rights?

Does it Model a Human Condition?

Yes

Description of human condition:

Mutations in human gene, NDUFS6, encoding one of the 45 subunits of Complex I, are one cause of Complex I deficiency. NDUFS6-/- patients suffer from seizures, hypotonia and abnormal eye movements and die in the first month of life. Currently, no effective treatment is available.

Research value of this Strain

Mutations in human gene cause lethal infantile mitochondrial disease. The mice exhibit different degrees of Complex I deficiency in various tissues, especially in the heart. Treatment of mitochondrial disorders is currently inadequate. We believe this is a very useful model for the study of cardiac myopathy and for investigating new treatment strategies.

Applicable Research Areas

Models for human disease
Cardiovascular

Keywords

Mitochondria
Cardiac
Complex I
Oxidative phosphorylation
ES cell

Is the strain available in any form to other researchers

Possibly

APB stock stored as:

Cryopreserved sperm (from 5 mice)

Are live mice available?

Limited

MTA needs to be signed?

Yes