ENSMUSG00000024527


Mus musculus

Features
Gene ID: ENSMUSG00000024527
  
Biological name :Afg3l2
  
Synonyms : Afg3l2 / AFG3-like protein 2 / Q8JZQ2
  
Possible biological names infered from orthology : AFG3 like matrix AAA peptidase subunit 2 / Q9Y4W6
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: E1
Gene start: 67404767
Gene end: 67449166
  
Corresponding Affymetrix probe sets: 10459534 (MoGene1.0st)   1427206_at (Mouse Genome 430 2.0 Array)   1427207_s_at (Mouse Genome 430 2.0 Array)   1454003_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025408
NCBI entrez gene - 69597     See in Manteia.
MGI - MGI:1916847
RefSeq - NM_027130
RefSeq - XM_011246998
RefSeq Peptide - NP_081406
swissprot - Q8JZQ2
Ensembl - ENSMUSG00000024527
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 afg3l2ENSDARG00000062272Danio rerio
 AFG3L2ENSGALG00000013853Gallus gallus
 AFG3L2ENSG00000141385Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Afg3l1 / Q920A7 / AFG3-like protein 1 ENSMUSG0000003196768
Spg7 / Q3ULF4 / Paraplegin / Q9UQ90* / SPG7, paraplegin matrix AAA peptidase subunit*ENSMUSG0000000073833


Protein motifs (from Interpro)
Interpro ID Name
 IPR000642  Peptidase M41
 IPR003593  AAA+ ATPase domain
 IPR003959  ATPase, AAA-type, core
 IPR003960  ATPase, AAA-type, conserved site
 IPR005936  Peptidase, FtsH
 IPR011546  Peptidase M41, FtsH extracellular
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR037219  Peptidase M41-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis ISO
 biological_processGO:0007005 mitochondrion organization IGI
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007528 neuromuscular junction development IMP
 biological_processGO:0008053 mitochondrial fusion IGI
 biological_processGO:0016485 protein processing IDA
 biological_processGO:0016540 protein autoprocessing IMP
 biological_processGO:0021675 nerve development IMP
 biological_processGO:0034982 mitochondrial protein processing IGI
 biological_processGO:0036444 calcium import into the mitochondrion IEA
 biological_processGO:0040014 regulation of multicellular organism growth IMP
 biological_processGO:0042407 cristae formation IGI
 biological_processGO:0042552 myelination IMP
 biological_processGO:0048747 muscle fiber development IMP
 biological_processGO:0051560 mitochondrial calcium ion homeostasis IEA
 biological_processGO:0060013 righting reflex IMP
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005745 m-AAA complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity ISO
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Processing of SMDT1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0000890 thin cerebellar molecular layer "reduced width of the outer of the three cortical layers of the cerebellum" [J:46854]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0000953 abnormal oligodendrocyte morphology "anomalous structure, number or composition of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0000956 reduced spinal cord size "smaller appearance of the spinal cord" [J:35802]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0001106 abnormal Schwann cell "malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ptprcm1Smv/Ptprcm1Smv
Genetic Background: involves: C57BL/6J * C57BL/10J

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002651 abnormal sciatic nerve "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0004098 abnormal granule neuron "any structural anomaly of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0006099 thin granule layer "reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65410]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008027 abnormal spinal cord white matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0009684 abnormal spinal cord lateral motor column morphology "any structural anomaly of the subclasses of motor neurons which innervate muscles in the limb; motor neurons in the lateral motor column are further organized into pools, each of which innervates a specific muscle in the limb" [PMID:8895454 "Tanabe Y, Jessell TM Diversity and pattern in the developing spinal cord. Science. 1996 Nov 15;274(5290):1115-23."]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

 MP:0009783 abnormal melanoblast morphology "any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell" [CL:0000541]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0010387 abnormal Bergmann glial cell morphology "any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

 MP:0010954 abnormal cellular respiration "anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration)" [GO:0045333]
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Allelic Composition: Il33tm1Amgn/Il33tm1Amgn
Genetic Background: B6.129-Il33tm1Amgn

 MP:0010955 abnormal respiratory electron transport chain "anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient" [GO:0022904]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0010956 abnormal mitochondrial ATP synthesis coupled electron transport "anomaly in the transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane and mediated by multisubunit enzyme complexes known as complex I-IV" [GO:0042775, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Stk36tm1.1Ptch/Stk36tm1.1Ptch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * Swiss Webster

Allelic Composition: Afg3l2Emv66/Afg3l2Emv66
Genetic Background: FVB.MEV2-Afg3l2Emv66

 MP:0011630 increased mitochondria size "enlarged the cellular organelles responsible for energy production" [MGI:csmith]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0011632 dilated mitochondria "the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0011633 abnormal mitochondrial shape "any anomaly in the characteristic surface outline or contour of a mitochondria" [MGI:csmith]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0011635 abnormal mitochondrial crista morphology "Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria" [GO:0030061]
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Allelic Composition: Afg3l2Emv66/Afg3l2+
Genetic Background: involves: MEV/2Ty

Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0011730 increased myelin sheath thickness "increase in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0011731 decreased myelin sheath thickness "decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0012023 decreased melanocyte number "reduced number of the cells that produce pigment" [MGI:llw2]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0013438 dysmyelination "reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin" [MGI:csmith]
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Allelic Composition: Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J

 MP:0014143 decreased body fat mass "decreased physical bulk or volume of fat in the whole body" [MGI:csmith]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: C57BL/6J * C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000004264 Phb2 / O35129 / Prohibitin-2 / Q99623*  / complex
 ENSMUSG00000025971 Maip1 / Q8BHE8 / m-AAA protease-interacting protein 1, mitochondrial / Q8WWC4* / matrix AAA peptidase interacting protein 1*  / complex
 ENSMUSG00000022452 Smdt1 / Q9DB10 / single-pass membrane protein with aspartate rich tail 1 / Q9H4I9*  / complex / reaction
 ENSMUSG00000029017 Pmpcb / Q9CXT8 / peptidase (mitochondrial processing) beta / O75439* / peptidase, mitochondrial processing beta subunit*  / reaction
 ENSMUSG00000038845 Phb / P67778 / Prohibitin / P35232*  / complex
 ENSMUSG00000000738 Spg7 / Q3ULF4 / Paraplegin / Q9UQ90* / SPG7, paraplegin matrix AAA peptidase subunit*  / complex






 

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