ENSMUSG00000032238


Mus musculus

Features
Gene ID: ENSMUSG00000032238
  
Biological name :Rora
  
Synonyms : P51448 / RAR-related orphan receptor alpha / Rora
  
Possible biological names infered from orthology : P35398 / RAR related orphan receptor A
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: C
Gene start: 68653786
Gene end: 69388246
  
Corresponding Affymetrix probe sets: 10586700 (MoGene1.0st)   1420583_a_at (Mouse Genome 430 2.0 Array)   1424034_at (Mouse Genome 430 2.0 Array)   1424035_at (Mouse Genome 430 2.0 Array)   1436325_at (Mouse Genome 430 2.0 Array)   1436326_at (Mouse Genome 430 2.0 Array)   1441085_at (Mouse Genome 430 2.0 Array)   1455165_at (Mouse Genome 430 2.0 Array)   1458129_at (Mouse Genome 430 2.0 Array)   1458145_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034766
Ensembl peptide - ENSMUSP00000109254
Ensembl peptide - ENSMUSP00000134291
NCBI entrez gene - 19883     See in Manteia.
MGI - MGI:104661
RefSeq - XM_017313219
RefSeq - NM_001289916
RefSeq - NM_013646
RefSeq - XM_006510877
RefSeq - XM_006510878
RefSeq - XM_006510880
RefSeq Peptide - NP_001276845
RefSeq Peptide - NP_038674
swissprot - Q3U1P4
swissprot - G3UZ02
swissprot - P51448
Ensembl - ENSMUSG00000032238
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 roraaENSDARG00000031768Danio rerio
 RORAENSGALG00000003759Gallus gallus
 RORAENSG00000069667Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rorb / Q8R1B8 / Nuclear receptor ROR-beta / Q92753* / RAR related orphan receptor B*ENSMUSG0000003619256
Rorc / P51450 / Nuclear receptor ROR-gamma / P51449* / RAR related orphan receptor C*ENSMUSG0000002815047
Nr1d2 / Q60674 / nuclear receptor subfamily 1, group D, member 2 / Q14995*ENSMUSG0000002177528
Nr1d1 / Q3UV55 / Nuclear receptor subfamily 1 group D member 1 / P20393*ENSMUSG0000002088925
Ppara / P23204 / peroxisome proliferator activated receptor alpha / Q07869*ENSMUSG0000002238322
Pparg / peroxisome proliferator activated receptor gamma / P37231*ENSMUSG0000000044022
Ppard / P35396 / Peroxisome proliferator-activated receptor delta / Q03181*ENSMUSG0000000225021
Nr5a2 / P45448 / Nuclear receptor subfamily 5 group A member 2 / O00482*ENSMUSG0000002639818
Nr6a1 / Q64249 / Nuclear receptor subfamily 6 group A member 1 / Q15406*ENSMUSG0000006397217
Nr5a1 / P33242 / Steroidogenic factor 1 / Q13285* / nuclear receptor subfamily 5 group A member 1*ENSMUSG0000002675117


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR003079  Nuclear receptor ROR
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis ISO
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated ISO
 biological_processGO:0006805 xenobiotic metabolic process IMP
 biological_processGO:0006809 nitric oxide biosynthetic process IMP
 biological_processGO:0007623 circadian rhythm TAS
 biological_processGO:0008589 regulation of smoothened signaling pathway IMP
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production ISS
 biological_processGO:0010906 regulation of glucose metabolic process IMP
 biological_processGO:0019218 regulation of steroid metabolic process IMP
 biological_processGO:0021702 cerebellar Purkinje cell differentiation IMP
 biological_processGO:0021930 cerebellar granule cell precursor proliferation IMP
 biological_processGO:0030522 intracellular receptor signaling pathway ISS
 biological_processGO:0032922 circadian regulation of gene expression IDA
 biological_processGO:0036315 cellular response to sterol ISO
 biological_processGO:0042692 muscle cell differentiation ISS
 biological_processGO:0042752 regulation of circadian rhythm IMP
 biological_processGO:0042753 positive regulation of circadian rhythm IDA
 biological_processGO:0043030 regulation of macrophage activation IMP
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling ISS
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0046068 cGMP metabolic process IMP
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0050728 negative regulation of inflammatory response ISS
 biological_processGO:0060850 regulation of transcription involved in cell fate commitment IMP
 biological_processGO:0070328 triglyceride homeostasis IMP
 biological_processGO:0071347 cellular response to interleukin-1 IDA
 biological_processGO:0071356 cellular response to tumor necrosis factor IDA
 biological_processGO:0071456 cellular response to hypoxia ISS
 biological_processGO:0072539 T-helper 17 cell differentiation IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding ISO
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001222 transcription corepressor binding ISO
 molecular_functionGO:0001223 transcription coactivator binding IPI
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISO
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0004879 nuclear receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0008134 transcription factor binding ISO
 molecular_functionGO:0008142 oxysterol binding ISO
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding ISS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0098531 transcription factor activity, direct ligand regulated sequence-specific DNA binding ISO


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0000250 abnormal vasoconstriction "anomalous narrowing of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0000408 absent duvet hair "missing duvet hair " [J:46854]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000424 retarded hair growth "slow growth of the hair, appears at normal time" [J:5476]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

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

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0000857 abnormal cerebellar foliation "malformation of small offshoots of the cerebellar lobules" [Principles of Neural Science:ISBN 0-8385-8034-3, J:52951]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0000872 abnormal external granule cell layer "malformation of the transient layer of the cerebellar cortex which is composed of the dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rorasg-3J/Rorasg-3J
Genetic Background: C57BL/6J-Rorasg-3J/J

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 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: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0000884 delaminated Purkinje cell layer "splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0000885 ectopic Purkinje cell "Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum" [MGI:tc, J:60896]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 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]
Show

Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0000888 absent cerebellar granule layer "missing innermost cortical layer of the cerebellum" [J:46854]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Rorasg-3J/Rorasg-3J
Genetic Background: C57BL/6J-Rorasg-3J/J

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL/6J

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Rorasg-3J/Rorasg-3J
Genetic Background: C57BL/6J-Rorasg-3J/J

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Rorasg-3J/Rorasg-3J
Genetic Background: C57BL/6J-Rorasg-3J/J

 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: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Rorasg-3J/Rorasg-3J
Genetic Background: C57BL/6J-Rorasg-3J/J

 MP:0001613 abnormal vasodilation "anomalous widening of the lumen of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001790 abnormal immune system physiology "deviation from the normal function of the immune system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001861 lung inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001927 abnormal oestrous cycle (sensu Rodentia) "failure of or aberrant timing of the sexual cycle of female animals" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0001984 abnormal olfaction "change in the ability to smell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002204 abnormal neurotransmitter physiology "aberrant function or production of endogenous signaling molecules secreted by neurons that alter the behavior of neurons or effector cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0002277 abnormal respiratory mucosa morphology "structural anomaly of the mucous membrane lining the respiratory tract" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002333 abnormal lung compliance "anomalous pulmonary volume change per unit pressure change " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002497 increased IgE "greater than normal immunoglobulin class E level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002566 abnormal sexual interaction "altered initiation, failure of initiation or incomplete mating behavior" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp9tm1Nlsn/Aqp9tm1Nlsn,Leprdb/Leprdb
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BLKS/J

 MP:0002722 abnormal immune system organ morphology "anomalous structure/organization or development of lymphoid organs" [cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0002741 small olfactory bulb "reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0002762 ectopic granule cells "granule cell body resides in a place other than the external or internal granule layer of the cerebellum" [J:4978]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003126 abnormal vulva morphology "anomaly in the structure of the external genitalia of the female" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0003643 spleen atrophy "wasting of the spleen resulting in reduced size" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0003644 thymus atrophy "wasting of the thymus resulting in reduced size " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0003684 abnormal inferior olivary complex "any structural abnormality in the capsule-shaped structure in the ventral medulla located just lateral and dorsal to the medullary pyramids; neurons in the inferior olivary nucleus are the source of climbing fiber input to the cerebellar cortex and have been implicated in various functions, such as learning and timing of movements" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0003699 abnormal female reproductive system physiology "anomaly in the function of the female organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0003953 abnormal hormone level "aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0003964 abnormal noradrenaline level "aberrant concentration of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0004101 abnormal brain interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0004263 abnormal limb posture "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0004494 abnormal synaptic glutamate release "aberrant secretion across synapses of the major excitatory neurotransmitter of the central nervous system (CNS), which acts through both ligand gated ion channels (ionotropic receptors) and G protein-coupled (metabotropic) receptors" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0004876 decreased mean arterial blood pressure "decrease in the average arterial pressure during a single cardiac cycle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0005338 atherosclerotic lesions "thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0005339 increased susceptibility to atherosclerosis "more likely than the norm to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0005601 increased angiogenesis "enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 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: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 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: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0008579 abnormal Purkinje cell differentiation "atypical production of or inability to produce the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0008651 increased interleukin-1 secretion "increase in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens" [MESH:D12.644.276.374.465.501]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0008924 decreased granule neuron number "reduction in the number 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" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0009008 delayed estrous cycle "onset of the sexual cycle of females occurring at a later than expected day/age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0009017 prolonged estrus "increase in the length of the estrous phase of the estrous cycle in female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0009020 prolonged metestrus "increase in the length of the metestrous phase of the estrous cycle in female animals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL/6

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0009942 abnormal olfactory bulb granule cell morphology "any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses" [NLX:nifext_123 "NeuroLex.org"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009946 abnormal olfactory bulb layer morphology "any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell" [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: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009947 abnormal olfactory bulb external plexiform layer morphology "any structural anomaly of the part of the olfactory bulb, lying superior to the mitral cell layer and inferior to the glomerular layer, which is mostly neuropil composed almost entirely of mitral and tufted cell dendrites, granule cell dendrites and their synaptic inputs" [NLX:nlx_96 "NeuroLex.org"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009948 abnormal olfactory bulb glomerular layer morphology 
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009949 abnormal olfactory bulb granule cell layer morphology 
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009950 abnormal olfactory bulb internal plexiform layer morphology 
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009951 abnormal olfactory bulb mitral cell layer morphology 
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0009956 abnormal cerebellar layer morphology "any structural anomaly of the laminar structure of the cerebellar cortex comprising the gray matter of the cerebellum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

Allelic Composition: Rorasg/Rora+
Genetic Background: involves: C57BL

 MP:0009958 absent cerebellar granule cells "absence 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" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009967 abnormal neuron proliferation "any anomaly in the ability of a neuron to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
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Allelic Composition: Rorasg/Rorasg
Genetic Background: involves: C57BL

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010057 abnormal olfactory bulb outer nerve layer moprhology "any strucutral anomaly of the outerpost layer of the olfactory bulb; consists primarily of olfactory afferent axons and ensheathing glia" [PMID:12533617]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
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Allelic Composition: Roratm1Mba/Roratm1Mba
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Roratm1Vgi/Roratm1Vgi
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

 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]
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Allelic Composition: Rnf10tm1b(KOMP)Wtsi/Rnf10tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Rnf10tm1b(KOMP)Wtsi/Ucd

 MP:0012490 abnormal cochlear VIII nucleus morphology "any structural anomaly of two paired brainstem nuclei, the dorsal cochlear nucleus and the ventral cochlear nucleus, that lie dorsal and ventral, respectively, to the inferior cerebellar peduncle at the rostral pole of the medulla; the cochlear nuclei receive input from the cochlear nerve and send projections to the inferior colliculus, the medial geniculate, and other forebrain structures" [MGI:csmith]
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Allelic Composition: Prnptm1Rcm/Prnptm1Rcm
Genetic Background: 129P2/OlaHsd-Prnptm1Rcm

 MP:0013551 decreased cerebellar granule cell precursor proliferation "reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division" [MGI:csmith]
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Allelic Composition: Roratmgc26/Roratmgc26
Genetic Background: involves: D7R75M

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction
 ENSMUSG00000055024 Ep300 / B2RWS6 / Histone acetyltransferase p300 / Q09472* / E1A binding protein p300*  / complex / reaction
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000029167 O70343 / Ppargc1a / Peroxisome proliferator-activated receptor gamma coactivator 1-alpha / Q9UBK2* / PPARG coactivator 1 alpha*  / complex / reaction






 

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