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Phenotypes Associated with This Genotype
Genotype
MGI:3797844
Allelic
Composition
Fxntm1Mkn/Fxntm1Mkn
Tg(FXN)YG8Pook/0
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fxntm1Mkn mutation (13 available); any Fxn mutation (30 available)
Tg(FXN)YG8Pook mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• embryonic lethality seen for Fxn-deficient embryos is recued by transgene expression; normal numbers of offspring are recovered and mice show normal lifespans, surviving to at least 2 years of age

growth/size/body
• significant increase is observed from 9 months of age

nervous system
N
• no neuronal histopathology is detected in cerebellar Purkinje cells or granule cells, and no abnormalities in brain or spinal cord regions are seen
• cerebellum shows increased induction of inflammation in response to lipopolysaccharide (LPS) treatment
• at 20 months, some axons in lumbar DRG display swelling and secondary demyelination
• some regions of lumbar DRG are devoid of cytoplasmic organelles at 20 months
• degenerating large DRG neurons are detected, with evidence of oxidative stress and mitochondrial dysfunction
• in mice >1 year of age, vacuoles are observed within the DRG in the cervical region
• 16% of cervical DRG sections display vacuoles
• prominent, giant vacuoles (round, singular or multiple) are observed in large sensory neuronal bodies of DRG in mice between 6 and 12 months, but not in controls; peripheral margination of nucleus in many large neuronal cell bodies with or without vacuoles
• 70% of lumbar DRG sections examined have vacuoles
• slight decrease in sensory action potential in 20-months old mice is detected, suggesting a mild progressive sensory neuropathy
• slight decrease in sensory nerve conduction velocity in 20-months old mice is detected, suggesting a mild progressive sensory neuropathy

behavior/neurological
• reduced rotarod performance is exhibited by mice from 3 months of age
• mice show a significant decrease in locomotor activity in the open field from 6 months of age

cardiovascular system
• patches of lipofuscin deposition and lysosymes, with accumulation of dispersed free glycogen disrupt regular arrangement of mitochondria within cardiomyocytes at 20 months

cellular
• mitochondrial respiratory chain function is decreased compared to controls
• in 6-9 month old animals, levels of oxidized proteins are increased, most significantly in cerebrum and cerebellum, with other significant increases seen in heart and skeletal muscle
• increased lipid peroxidation is detected in heart samples

muscle
• patches of lipofuscin deposition and lysosymes, with accumulation of dispersed free glycogen disrupt regular arrangement of mitochondria within cardiomyocytes at 20 months

homeostasis/metabolism
• aconitase activity is decreased to <70% of wild-type levels

immune system
• cerebellum shows increased induction of inflammation in response to lipopolysaccharide (LPS) treatment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Friedreich ataxia DOID:12705 OMIM:229300
OMIM:601992
J:114840 , J:216422


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