Home - Australian Phenome Bank

Mouse Strain information

APB ID

5431

Added

14/02/2011

Last Edited

06/06/2014

Strain nomenclature:

STOCK Ndufs4fky/DrthApb

Nickname:

Funky

Strain designation name:

STOCK-Ndufs4fky/Drth

Genetics

Strain Types

Mutant strain

Genetic Details

Spontaneous

Mode of Inheritance

Recessive

1. Affected Gene Name: NADH dehydrogenase (ubiquinone) Fe-S protein 4

Chromosome	13
Affected Gene Symbol	Ndufs4
Protein expression of altered gene:	Reduced
Genetic alteration of gene:	Spontaneous insertion of a B2 short interspersed nuclear element (SINE) (245 nucleotides) within exon 3 of Ndufs4. This results in a truncated Ndufs4 transcript lacking exon 3, which is predicted to cause a frameshift and result in a premature stop codon (PTC) in exon 4.
Location on chromosome (bp):	115078858-115178251 bp, - strand (From NCBI 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:1343135
Synonyms	C1-18k
Allele Name	funky
Allele Symbol	Ndufs4fky
MGI Allele Accession ID	MGI:4942335

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Homozygous mice initially present with fur loss around postnatal day 14, which regrows in the next hair cycle. They show reduced growth and several behavioural abnormalities that appear from postnatal week five, such as tilting of the head, walking in circles and twisting of the body when suspended by the tail. Due to progressively wobbly gait and general deterioration in physical condition, all homozygous mice have to be euthanased around postnatal week eight in compliance with ethical guidelines.

Phenotype Heterozygous State

Appears indistinguishable from Wild-Type

Original Genetic Background

Routine breeding of Dnmt3L transgenic C57BL/6 mice

Genetic Background Currently Maintained

C57BL/6

Strain identification

How is this strain characterised?

Genotyping

PCR protocols

Funky Genotyping

Suggested existing PCR names:

Funky genotyping

Fertility and Strain maintenance

Fertility and Strain maintenance

	Female	Male
Are homozygous mice viable?	Yes	Yes
Are homozygous mice fertile?	Unknown	Unknown
*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.
Generations Backcrossed	unknown
Mating Scheme	het X het
Homozygous Matings Required?	No
Male Fertility Compromised?	No
Breeding Performance	Poor
Special Husbandry Requirements	Due to the development of the neurological phenotype in Ndufs4-/- mice, these mice are carefully monitored upon identification by genotyping. We have developed a set of guidelines to comply with our animal ethics approval, which defines when intervention and/or euthanasia is needed to reduce suffering in the animals. These guidelines can be provided by contacting the investigators. In general, affected mice are monitored for weight loss and the appearance of neurological symptoms such as curling upwards when held by the tail, wobbly gait, tilting of head and circling. Mice that display neurological symptoms, or mice that have lost 10% of their weight, are euthanased for ethical regions.

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Does it Model a Human Condition?

Yes

Description of human condition:

Mitochondrial Disease; Leigh Syndrome

Research value of this Strain

In humans, the lack of Ndufs4 results in a deficiency of Complex I, the first enzyme of the mitochondrial oxidative phosphorylation system. This causes mitochondrial disease, in particular Leigh syndrome, which is characterized by progressive neurodegeneration. The Ndufs4-/- mouse model provides the opportunity to further explore the pathogenesis of mitochondrial diseases, and in particular the impact on neuronal function.

Applicable Research Areas

Models for human disease
Neurobiology
Metabolism

Keywords

Mitochondria
Oxidative Phosphorylation
Complex I

Is the strain available in any form to other researchers

Possibly

APB stock stored as:

Cryopreserved sperm (from 5 mice)

Are live mice available?

MTA needs to be signed?

Yes