Afg3l2 Phenotype Annotations

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

Allelic Composition Genetic Background	Annotated Term	Reference
Afg3l2^Emv66/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
Afg3l2^Emv66/Afg3l2^Emv66 FVB.MEV2-Afg3l2^Emv66/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
Afg3l2^Emv66/Afg3l2^Emv66 involves: C57BL/6 * FVB/N * MEV/2Ty	abnormal mitochondrial morphology	J:193564
Afg3l2^par/Afg3l2^par 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
Afg3l2^tm1Arte/Afg3l2^tm1Arte 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
Afg3l2^tm1Arte/Afg3l2^tm1Arte 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

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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