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Phenotypes Associated with This Genotype
involves: MEV/2Ty
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2Emv66 mutation (0 available); any Afg3l2 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• mice show limb clasping on tail suspension beginning at 8-10 months of age, with 84.7% of mice showing clasping by 12 months
• 4 month old mutants can hardly walk along a beam and make more foot slips compared to wild-type mice
• mice fail to maintain balance on the rotarod at 4 months; performance worsens with age
• when traversing a beam, mutants flatten their abdomen and thorax against the upper surface of the beam instead of adapting a stable upright posture as in wild-type mice
• mutants show increased latency to cross a beam
• negative-geotaxis reflex is seen at 4 months of age and worsens with age
• altered gait is seen at 4 months of age and worsens with age, such that 12 month old mutants show uncoordinated hindlimb movement
• pelvic elevation is seen at 12 months of age and worsens with age

nervous system
• progressive degeneration and loss of Purkinje cell in the cerebella, beginning at 4 months of age
• Purkinje cells undergo dark cell degeneration, characteristic of excitotoxic injury
• however, motoneuron degeneration in the spinal cord is not seen
• dendritic stalks are abbreviated and hypertrophic with poorly arborized dendritic branches
• enlarged, vacuolated mitochondria in Purkinje cell dendrites
• at 12 months, mitochondria with destroyed cristae, and organelles with unusual shapes and spatial organization are seen in the granule cell layer
• aberrant mitochondria are seen in the granule cell layer at 4 months age, the number of which increases over time
• granule cells progressively deteriorate such that at 6 months, many cells show empty cytoplasm and nucleus with condensed chromatin, features of late-stage apoptosis
• at 6 and 12 months of age
• reduction in molecular layer thickness at 6 months of age, consisting mostly of Purkinje cell dendrites
• extensive reactive gliosis in the granule cell layer at 12 months of age
• cerebella exhibits activated astrocytes

• Purkinje cells and granule cells show defects in mitochondrial morphology, distribution, and cristae organization by 4 months of age
• cristae structure is abnormal in Purkinje cells and granule cells
• mitochondria in Purkinje cells and granule cells are larger
• Purkinje cells show impaired mitochondrial bioenergetics, with a deficiency in respiratory chain complexes I and III, leading to increased levels of protein carbonylation and mitochondrial reactive oxygen species production
• mice show reduced ATP synthesis in mitochondria from cerebellum, but not from entire brain or spinal cord, at 6 months with pyruvate, glutamate, and succinate/rotenone, which becomes more severe at 12 months of age
• Purkinje cells show increased reactive oxygen species production

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 28 DOID:0050977 OMIM:610246

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory