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Phenotypes Associated with This Genotype
Genotype
MGI:2387325
Allelic
Composition
Aifm1Hq/Aifm1Hq
Genetic
Background
B6CBACa Aw-J/A-Aifm1Hq/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aifm1Hq mutation (1 available); any Aifm1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• significantly reduced survival at both 1 and 4 weeks after transverse aortic banding
• about 30% of mice die during the first 6 months, with most deaths occurring between 15 and 30 days of age

growth/size/body
• body weight varies widely

behavior/neurological
• mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed
• age of onset is approximately 5 months
• a perceptible lateral tremor at rest by 9 months of age
• age of onset is approximately 5 months of age (J:79052)
• mild (J:79052)
• truncal ataxia by 9 months (J:79052)
• ataxia is seen in most mice at 3 months of age and by 6 months of age, 90% of mice show severe ataxia while 8% have no signs of ataxia (J:144096)
• mice show impaired coordination on the rotarod from 4 months of age
• side by side unsteady gait at 5 months of age
• marked lateral swaying when moving and at rest by 9 months of age

nervous system
• mice are protected against CA3 region damage at both 4 and 7 days after kainic acid induced stage 4 seizures although some cell damage is observed
• resistant to cell death induced by glutamate, NMDA, and kainic acid
• Purkinje cell loss occurs later than granule cell loss (J:78983)
• cell loss apparently due to necrosis (J:78983)
• many Purkinje cells are dead by 7 months of age (J:78983)
• described as mild and patchy in the folia, but extensive in the floccular lobes in mice 5-8 months of age (J:79052)
• losses are preferentially from the caudal vermis and hemispheres (J:78983)
• most caudal granule cells are lost by 12 months (J:78983)
• no reduction in the folia but extensive loss in the floccular lobes in mice 5-8 months of age (J:79052)
• pyknotic granule cell nuclei at 4 months of age
• apoptotic granule cells seen at 4 months of age
• cerebellum normal before 3 months
• much smaller at 7 months
• cell loss is seen in the ganglion layer after about 3 months of age
• ganglion cell loss is seen after about 3 months of age
• ocular hypoplasia, with absence of the optic nerve in 40% of mice at 1 month of age

vision/eye
• cell loss is seen in the ganglion layer after about 3 months of age
• ganglion cell loss is seen after about 3 months of age
• ocular hypoplasia, with absence of the optic nerve in 40% of mice at 1 month of age
• thinning by 11 months
• thinning by 11 months
• onset of retinal degeneration is after 3 months of age
• cell loss is seen in all layers of the retina by 11 months
• both rod and cone ERG are diminished by 4 months of age
• ERG responses are completely abolished by 10 months of age

cellular
• greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding
• cerebellar granule cells and retina cells re-enter the cell cycle with greater frequency than in controls
• number of cycling cells in the cerebellum and retina increase through 7 months and then declines
• resistant to cell death induced by glutamate, NMDA, and kainic acid
• granule cells of the cerebellum in culture show increased sensitivity to hydrogen peroxide
• respiratory chain complex I deficiency is detected at 1 month of age and is seen in the cerebellum, thalamus, cortical-enriched brain fractions, optic nerves, and retinas at 6 months of age, with activity about 50% of wild-type levels in the cerebellum
• respiratory chain complex I activity is reduced by 20% in the spinal cord, by 10% in kidney, and by 30% in skeletal muscle and is normal in heart, liver, and testis
• complex I deficiency is greatest by 1 month of age in the cerebellum and skeletal muscle, while it is modest or absent in the thalamus, cortex, and optic nerve at 1 month of age and reaches 50% by 6 months of age
• increased sensitivity of the cerebellum to oxidative stress (J:78983)
• oxidative damage to mitochondria of the cerebellar granular layer and the ganglion layer of the retina (J:78983)
• slightly increased as a result of transverse aortic banding (J:110278)

cardiovascular system
• hypertrophy due to transverse aorting banding is twice as great as is seen in controls
• increased left ventricular internal diameter relative to controls as a result of transverse aortic banding
• deterioration of cardiac contractility as a result of transverse aortic banding
• cardiomyocytes more prone to die in response to exposure to hydrogen peroxide
• greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding
• increased sensitivity to ischemia/reperfusion injury
• over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion
• experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals
• apoptosis in viable muscle cells is also increased

muscle
• deterioration of cardiac contractility as a result of transverse aortic banding
• greatly increased levels of both apoptosis and necrosis in myocytes after transverse aortic banding

homeostasis/metabolism
• increased sensitivity to ischemia/reperfusion injury
• over 80% fail to survive 30minutes of left anterior descending artery occlusion followed by 2 to 24 hours of reperfusion
• experimental infarction size is increased by 50% over controls in 2 month old animals and by 78% in 6 month old animals
• apoptosis in viable muscle cells is also increased
• resistant to cell death induced by glutamate, NMDA, and kainic acid
• mice exhibit moderately elevated superoxide dismutase activities at 6 months of age in skeletal muscle
• catalase activity increased in the cerebellum at 1 and 3 months of age (J:78983)
• mice exhibit moderately elevated catalase activities at 6 months of age in skeletal muscle (J:144096)

integument
• complete baldness in most mice initially, followed by some hair growth resulting in a patchy or near-normal coat
• at 3 months of age, about 50% of mice are bald over more than 30% of their body and about 30% have near-normal fur, and 10% of mice have near-normal fur at 6 months of age
• described as nearly bald

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mitochondrial complex I deficiency DOID:0060536 OMIM:252010
J:144096


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
11/05/2019
MGI 6.14
The Jackson Laboratory