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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Afg3l2
AFG3-like AAA ATPase 2
MGI:1916847
58 phenotypes from 3 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Afg3l2Emv66/Afg3l2+
involves: MEV/2Ty
abnormal cerebellar granule cell morphology J:151797
abnormal cerebellar granule layer morphology J:151797
abnormal gait J:151797
abnormal locomotor activation J:151797
abnormal mitochondrial ATP synthesis coupled electron transport J:151797
abnormal mitochondrial crista morphology J:151797
abnormal mitochondrial morphology J:151797
abnormal neuron mitochondrial morphology J:151797
abnormal Purkinje cell dendrite morphology J:151797
abnormal respiratory electron transport chain J:151797
astrocytosis J:151797
gliosis J:151797
impaired balance J:151797
impaired coordination J:151797
increased mitochondrial size J:151797
limb grasping J:151797
oxidative stress J:151797
Purkinje cell degeneration J:151797
thin cerebellar granule layer J:151797
thin cerebellar molecular layer J:151797
Afg3l2Emv66/Afg3l2Emv66
FVB.MEV2-Afg3l2Emv66/TyJ
abnormal axon morphology J:132285
abnormal myelination J:132285
abnormal neuron morphology J:132285
abnormal respiratory electron transport chain J:132285
abnormal skeletal muscle fiber morphology J:132285
abnormal spinal cord white matter morphology J:132285
normal cellular phenotype J:132285
centrally nucleated skeletal muscle fibers J:132285
decreased body size J:132285
decreased skeletal muscle fiber size J:132285
decreased spinal cord size J:132285
impaired coordination J:132285
impaired righting response J:132285
normal liver/biliary system phenotype J:132285
paralysis J:132285
postnatal lethality, complete penetrance J:132285
progressive muscle weakness J:132285
Afg3l2Emv66/Afg3l2Emv66
involves: C57BL/6 * FVB/N * MEV/2Ty
abnormal mitochondrial morphology J:193564
Afg3l2par/Afg3l2par
Not Specified
abnormal axon morphology J:106411, J:132285
abnormal miniature endplate potential J:13950
abnormal motor neuron morphology J:34237
abnormal myelin sheath morphology J:106411
abnormal myelination J:132285
abnormal neuromuscular synapse morphology J:13950, J:106411
abnormal neuron morphology J:132285
abnormal reflex J:106411
abnormal respiratory electron transport chain J:132285
abnormal skeletal muscle fiber morphology J:132285
abnormal spinal cord lateral motor column morphology J:34237
abnormal spinal cord white matter morphology J:132285
axon degeneration J:13950
normal cellular phenotype J:132285
centrally nucleated skeletal muscle fibers J:132285
decreased body size J:13950, J:106411, J:132285
decreased body weight J:34237, J:106411
decreased motor neuron number J:34237
decreased skeletal muscle fiber size J:106411, J:132285
decreased spinal cord size J:132285
impaired coordination J:34237, J:132285
impaired righting response J:34237, J:106411, J:132285
normal liver/biliary system phenotype J:132285
muscle weakness J:34237
muscular atrophy J:34237, J:106411
paralysis J:13950, J:34237, J:132285
postnatal lethality, complete penetrance J:13950
progressive muscle weakness J:13950, J:132285
tremors J:106411
Afg3l2tm1Arte/Afg3l2tm1Arte
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
abnormal Bergmann glial cell morphology J:193564
abnormal cellular respiration J:193564
abnormal gait J:193564
abnormal Purkinje cell mitochondrial morphology J:193564
astrocytosis J:193564
decreased neuron number J:193564
microgliosis J:193564
neurodegeneration J:193564
Purkinje cell degeneration J:193564
Afg3l2tm1Arte/Afg3l2tm1Arte
Tg(Plp1-cre/ERT)3Pop/0
involves: C57BL/6J
abnormal mitochondrial crista morphology J:237410
abnormal oligodendrocyte morphology J:237410
abnormal spinal cord white matter morphology J:237410
axon degeneration J:237410
decreased myelin sheath thickness J:237410
dysmyelination J:237410
normal growth/size/body region phenotype J:237410
impaired coordination J:237410
increased mitochondrial size J:237410
increased myelin sheath thickness J:237410

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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
04/16/2024
MGI 6.23
The Jackson Laboratory