ENSMUSG00000036273


Mus musculus

Features
Gene ID: ENSMUSG00000036273
  
Biological name :Lrrk2
  
Synonyms : Leucine-rich repeat serine/threonine-protein kinase 2 / Lrrk2 / Q5S006
  
Possible biological names infered from orthology : leucine rich repeat kinase 2 / Q5S007
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: E3
Gene start: 91673175
Gene end: 91816120
  
Corresponding Affymetrix probe sets: 10426315 (MoGene1.0st)   1431394_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000052584
NCBI entrez gene - 66725     See in Manteia.
MGI - MGI:1913975
RefSeq - NM_025730
RefSeq - XM_006521277
RefSeq Peptide - NP_080006
swissprot - Q5S006
Ensembl - ENSMUSG00000036273
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrrk2ENSDARG00000006169Danio rerio
 LRRK2ENSGALG00000007161Gallus gallus
 LRRK2ENSG00000188906Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lrrk1 / Q3UHC2 / Leucine-rich repeat serine/threonine-protein kinase 1 / Q38SD2* / leucine rich repeat kinase 1*ENSMUSG0000001513318
Prkd3 / Q8K1Y2 / protein kinase D3 / O94806*ENSMUSG000000240707
Prkd1 / Q62101 / protein kinase D1 / Q15139*ENSMUSG000000026887
Prkd2 / Q8BZ03 / protein kinase D2 / Q9BZL6*ENSMUSG000000411877


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR005225  Small GTP-binding protein domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016024  Armadillo-type fold
 IPR017441  Protein kinase, ATP binding site
 IPR020859  Roc domain
 IPR025875  Leucine rich repeat 4
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR032171  C-terminal of Roc (COR) domain
 IPR032675  Leucine-rich repeat domain superfamily
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade IEA
 biological_processGO:0000186 activation of MAPKK activity IEA
 biological_processGO:0000187 activation of MAPK activity IEA
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0001934 positive regulation of protein phosphorylation IEA
 biological_processGO:0006468 protein phosphorylation ISO
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007005 mitochondrion organization IEA
 biological_processGO:0007030 Golgi organization IEA
 biological_processGO:0007040 lysosome organization IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0008340 determination of adult lifespan IEA
 biological_processGO:0009267 cellular response to starvation IEA
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0010506 regulation of autophagy IEA
 biological_processGO:0010508 positive regulation of autophagy IEA
 biological_processGO:0010738 regulation of protein kinase A signaling IMP
 biological_processGO:0010955 negative regulation of protein processing IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0014041 regulation of neuron maturation IEA
 biological_processGO:0016242 negative regulation of macroautophagy IEA
 biological_processGO:0016310 phosphorylation ISO
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IEA
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0021756 striatum development IEA
 biological_processGO:0021772 olfactory bulb development IEA
 biological_processGO:0022028 tangential migration from the subventricular zone to the olfactory bulb IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031398 positive regulation of protein ubiquitination IEA
 biological_processGO:0032091 negative regulation of protein binding IEA
 biological_processGO:0032092 positive regulation of protein binding IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0033160 positive regulation of protein import into nucleus, translocation IMP
 biological_processGO:0034260 negative regulation of GTPase activity IEA
 biological_processGO:0034599 cellular response to oxidative stress IEA
 biological_processGO:0034613 cellular protein localization IMP
 biological_processGO:0035556 intracellular signal transduction IMP
 biological_processGO:0035564 regulation of kidney size IMP
 biological_processGO:0035640 exploration behavior IEA
 biological_processGO:0035641 locomotory exploration behavior IMP
 biological_processGO:0035751 regulation of lysosomal lumen pH IEA
 biological_processGO:0036465 synaptic vesicle recycling TAS
 biological_processGO:0040012 regulation of locomotion IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0043068 positive regulation of programmed cell death IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0046039 GTP metabolic process IEA
 biological_processGO:0046777 protein autophosphorylation IEA
 biological_processGO:0048312 intracellular distribution of mitochondria IEA
 biological_processGO:0048812 neuron projection morphogenesis IEA
 biological_processGO:0051646 mitochondrion localization IEA
 biological_processGO:0051770 positive regulation of nitric-oxide synthase biosynthetic process IEA
 biological_processGO:0051900 regulation of mitochondrial depolarization IEA
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic IMP
 biological_processGO:0060079 excitatory postsynaptic potential IMP
 biological_processGO:0060159 regulation of dopamine receptor signaling pathway IMP
 biological_processGO:0060161 positive regulation of dopamine receptor signaling pathway IEA
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway IPI
 biological_processGO:0061001 regulation of dendritic spine morphogenesis IEA
 biological_processGO:0070997 neuron death IEA
 biological_processGO:0071287 cellular response to manganese ion IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0072593 reactive oxygen species metabolic process IEA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IEA
 biological_processGO:0090394 negative regulation of excitatory postsynaptic potential IMP
 biological_processGO:0140058 neuron projection arborization IEA
 biological_processGO:1900244 positive regulation of synaptic vesicle endocytosis IEA
 biological_processGO:1901214 regulation of neuron death IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1901727 positive regulation of histone deacetylase activity IMP
 biological_processGO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
 biological_processGO:1902499 positive regulation of protein autoubiquitination IEA
 biological_processGO:1902692 regulation of neuroblast proliferation IEA
 biological_processGO:1902803 regulation of synaptic vesicle transport IMP
 biological_processGO:1902902 negative regulation of autophagosome assembly IEA
 biological_processGO:1903125 negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation IEA
 biological_processGO:1903206 negative regulation of hydrogen peroxide-induced cell death IEA
 biological_processGO:1903215 negative regulation of protein targeting to mitochondrion IEA
 biological_processGO:1903351 cellular response to dopamine IEA
 biological_processGO:1903980 positive regulation of microglial cell activation IEA
 biological_processGO:1904469 positive regulation of tumor necrosis factor secretion IEA
 biological_processGO:1904887 Wnt signalosome assembly IC
 biological_processGO:1905279 regulation of retrograde transport, endosome to Golgi IEA
 biological_processGO:1905289 regulation of CAMKK-AMPK signaling cascade IEA
 biological_processGO:2000172 regulation of branching morphogenesis of a nerve IEA
 biological_processGO:2000300 regulation of synaptic vesicle exocytosis IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005798 Golgi-associated vesicle IEA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0008021 synaptic vesicle IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016234 inclusion body IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon ISO
 cellular_componentGO:0030425 dendrite IDA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0030672 synaptic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 cellular_componentGO:0032473 cytoplasmic side of mitochondrial outer membrane IEA
 cellular_componentGO:0032839 dendrite cytoplasm IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043195 terminal bouton IC
 cellular_componentGO:0043204 perikaryon ISO
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0044753 amphisome IEA
 cellular_componentGO:0044754 autolysosome IEA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0097487 multivesicular body, internal vesicle IEA
 cellular_componentGO:0098794 postsynapse IEA
 cellular_componentGO:0099400 caveola neck IEA
 cellular_componentGO:1990909 Wnt signalosome IEA
 molecular_functionGO:0000149 SNARE binding IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0004672 protein kinase activity ISO
 molecular_functionGO:0004674 protein serine/threonine kinase activity IBA
 molecular_functionGO:0004708 MAP kinase kinase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IBA
 molecular_functionGO:0005096 GTPase activator activity ISO
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding ISO
 molecular_functionGO:0015631 tubulin binding IEA
 molecular_functionGO:0016301 kinase activity ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017048 Rho GTPase binding IEA
 molecular_functionGO:0017075 syntaxin-1 binding IEA
 molecular_functionGO:0030159 receptor signaling complex scaffold activity IC
 molecular_functionGO:0030276 clathrin binding IEA
 molecular_functionGO:0034211 GTP-dependent protein kinase activity IEA
 molecular_functionGO:0036479 peroxidase inhibitor activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IC
 molecular_functionGO:0051018 protein kinase A binding IPI
 molecular_functionGO:1904713 beta-catenin destruction complex binding IPI


Pathways (from Reactome)
Pathway description
PTK6 promotes HIF1A stabilization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Tg(LckNotch1)9Erob/?
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001441 increased grooming behavior "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Tg(LckNotch1)9Erob/?
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001739 abnormal adrenal secretion "altered ability of the surparenal gland to secrete hormones " [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

 MP:0001905 abnormal dopamine level "greater or less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * C57BL/6J

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm3.1Shn/Lrrk2tm3.1Shn
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Lrrk2tm2.1Npa/Lrrk2tm2.1Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nebtm1.1Hgra/Nebtm1.1Hgra
Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

Allelic Composition: Lrrk2tm2Arte/Lrrk2tm2Arte
Genetic Background: Not Specified

 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]
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Lrrk2tm2.1Npa/Lrrk2tm2.1Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002761 abnormal hippocampal mossy fiber morphology "absence or misprojection of axons of neuronal cells in the dentate gyrus" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:4978]
Show

Allelic Composition: ApcMin/Apc+,Hdac2Gt(W035F03)Joe/Hdac2Gt(W035F03)Joe
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 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]
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm3.1Shn/Lrrk2tm3.1Shn
Genetic Background: involves: 129 * C57BL/6

 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]
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
Show

Allelic Composition: Gt(ROSA)26Sortm39.1(CAG-hop/EYFP)Hze/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * C57BL/6NCr

 MP:0003858 enhanced coordination "improved ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Lrrk2tm2.1Npa/Lrrk2tm2.1Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0003918 decreased kidney weight "reduced heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm3.1Shn/Lrrk2tm3.1Shn
Genetic Background: involves: 129 * C57BL/6

 MP:0004077 abnormal striatum morphology "malformation of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

 MP:0004153 increased renal tubule apoptosis "increase in the number of renal tubule cells undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

 MP:0004250 tau protein deposits "formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * C57BL/6J

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Lrrk2tm2.1Npa/Lrrk2tm2.1Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0004970 kidney atrophy "wasting of the kidney due to injury or disease, resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm3.1Shn/Lrrk2tm3.1Shn
Genetic Background: involves: 129 * C57BL/6

 MP:0004980 increased neuronal precursor cell number "increased number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: ApcMin/Apc+,Hdac2Gt(W035F03)Joe/Hdac2Gt(W035F03)Joe
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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]
Show

Allelic Composition: Il1rapl1tm1.1Hesk/Y
Genetic Background: involves: C57BL/6

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * C57BL/6J

 MP:0006037 abnormal mitochondrial proliferation "anomalous reproduction of mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0006143 increased diastolic blood pressure "abnormal increase in the pressure in the arteries between heart beats when the heart is relaxed" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Spo11tm1Nki/Spo11tm1Nki
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: ApcMin/Apc+,Hdac2Gt(W035F03)Joe/Hdac2Gt(W035F03)Joe
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
Show

Allelic Composition: Il1rapl1tm1.1Hesk/Y
Genetic Background: involves: C57BL/6

Allelic Composition: Lrrk2tm1Mjfa/Lrrk2tm1Mjfa
Genetic Background: involves: C57BL/6

 MP:0008842 lipofuscinosis "storage in organs of brownish fatty pigment resulting from the breakdown and absorption of damaged blood cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm1.2Npa/Lrrk2tm1.2Npa
Genetic Background: involves: BALB/c * C57BL/6J

Allelic Composition: Lrrk2tm2.1Npa/Lrrk2tm2.1Npa
Genetic Background: involves: BALB/c * C57BL/6J

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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"]
Show

Allelic Composition: Ptgs2tm1.1Wls/Ptgs2tm1.1Wls
Genetic Background: B6.129-Ptgs2tm1.1Wls

Allelic Composition: Lrrk2tm1.1Cai/Lrrk2tm1.1Cai
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009747 impaired behavioral response to xenobiotic "decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0009750 impaired behavioral response to addictive substance "decreased sensitivity to an addictive substance capable of inducing the appearance of behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hip1tm4Tsr/Hip1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0010149 abnormal synaptic dopamine release "aberrant secretion across synapses of the catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * C57BL/6J

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Tg(LckNotch1)9Erob/?
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0011368 increased kidney apoptosis "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

 MP:0011369 increased renal glomerulus apoptosis "increase in the number of cells of the kidney glomerulus undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

 MP:0011534 granular kidney "a kidney in which fairly uniform, diffusely and evenly situated foci of scarring of the interstitial tissue of the cortex (and sometimes scarring of glomeruli), and the associated slight degree of bulging of groups of dilated tubules, leads to the development of a minutely bosselated surface; such kidneys are seen in arteriolar nephrosclerosis or chronic glomerulonephritis" [MGI:anna]
Show

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Lrrk2tm3.1Shn/Lrrk2tm3.1Shn
Genetic Background: involves: 129 * C57BL/6

 MP:0011629 decreased mitochondria number "fewer than normal number of the cellular organelles responsible for energy production" [MGI:csmith]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * 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]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

 MP:0011633 abnormal mitochondrial shape "any anomaly in the characteristic surface outline or contour of a mitochondria" [MGI:csmith]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * 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]
Show

Allelic Composition: Atxn3tm2.1(ATXN3*)Mfig/Atxn3+
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Lrrk2tm1.1Hlme/Lrrk2+
Genetic Background: involves: C57BL/6 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038751 Ptk6 / Q64434 / PTK6 protein tyrosine kinase 6 / Q13882* / protein tyrosine kinase 6*  / complex
 ENSMUSG00000020122 Egfr / Q01279 / Epidermal growth factor receptor / P00533*  / complex
 ENSMUSG00000024486 Hbegf / Q06186 / Proheparin-binding EGF-like growth factor Heparin-binding EGF-like growth factor / Q99075* / heparin binding EGF like growth factor*  / complex
 ENSMUSG00000029816 Gpnmb / Q99P91 / Transmembrane glycoprotein NMB / Q14956* / glycoprotein nmb*  / complex
 ENSMUSG00000021109 Hif1a / Q61221 / Hypoxia-inducible factor 1-alpha / Q16665* / hypoxia inducible factor 1 alpha subunit*  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr