ENSMUSG00000017740


Mus musculus

Features
Gene ID: ENSMUSG00000017740
  
Biological name :Slc12a5
  
Synonyms : Q91V14 / Slc12a5 / solute carrier family 12, member 5
  
Possible biological names infered from orthology : Q9H2X9
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H3
Gene start: 164960802
Gene end: 164999731
  
Corresponding Affymetrix probe sets: 10478647 (MoGene1.0st)   1425337_at (Mouse Genome 430 2.0 Array)   1451674_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000096690
Ensembl peptide - ENSMUSP00000144623
Ensembl peptide - ENSMUSP00000144540
Ensembl peptide - ENSMUSP00000144365
Ensembl peptide - ENSMUSP00000143973
Ensembl peptide - ENSMUSP00000143870
NCBI entrez gene - 57138     See in Manteia.
MGI - MGI:1862037
RefSeq - XM_006499944
RefSeq - NM_001355480
RefSeq - NM_001355481
RefSeq - NM_020333
RefSeq - XM_006499943
RefSeq Peptide - NP_001342409
RefSeq Peptide - NP_001342410
RefSeq Peptide - NP_065066
swissprot - A0A0J9YU26
swissprot - A0A076FSX1
swissprot - A0A076FRG6
swissprot - A0A0J9YUW1
swissprot - A0A076FR46
swissprot - Q91V14
swissprot - A0A0J9YV84
Ensembl - ENSMUSG00000017740
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc12a5aENSDARG00000075815Danio rerio
 slc12a5bENSDARG00000078187Danio rerio
 SLC12A5ENSGALG00000042199Gallus gallus
 Q9H2X9ENSG00000124140Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WVL3 / Slc12a7 / solute carrier family 12, member 7 / Q9Y666*ENSMUSG0000001775671
Q924N4 / Slc12a6 / Solute carrier family 12 member 6 / Q9UHW9*ENSMUSG0000002713069
Q9JIS8 / Slc12a4 / solute carrier family 12, member 4 / Q9UP95*ENSMUSG0000001776567
Gm21985 / Q9UHW9* / SLC12A6* / solute carrier family 12 member 6*ENSMUSG0000009676466
Slc12a2 / solute carrier family 12 member 2 / P55011*ENSMUSG0000002459725
Slc12a1 / solute carrier family 12, member 1 / Q13621*ENSMUSG0000002720225
P59158 / Slc12a3 / Solute carrier family 12 member 3 / P55017*ENSMUSG0000003176624
Q99MR3 / Slc12a9 / Solute carrier family 12 member 9 / Q9BXP2*ENSMUSG0000003734420
Q8VI23 / Slc12a8 / solute carrier family 12 (potassium/chloride transporters), member 8 / A0AV02* / solute carrier family 12 member 8*ENSMUSG0000003550615


Protein motifs (from Interpro)
Interpro ID Name
 IPR000076  K/Cl co-transporter
 IPR004841  Amino acid permease/ SLC12A domain
 IPR004842  SLC12A transporter family
 IPR018491  SLC12A transporter, C-terminal
 IPR030358  K/Cl co-transporter 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006821 chloride transport IMP
 biological_processGO:0006873 cellular ion homeostasis ISO
 biological_processGO:0006971 hypotonic response ISO
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007612 learning IMP
 biological_processGO:0030644 cellular chloride ion homeostasis ISO
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0040040 thermosensory behavior IMP
 biological_processGO:0042493 response to drug IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060996 dendritic spine development ISO
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043198 dendritic shaft IDA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015108 chloride transmembrane transporter activity ISO
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015377 cation:chloride symporter activity IEA
 molecular_functionGO:0015379 potassium:chloride symporter activity IEA
 molecular_functionGO:0019901 protein kinase binding ISO


Pathways (from Reactome)
Pathway description
Cation-coupled Chloride cotransporters


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001512 trunk curl "posture of the trunk in a curled position" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001968 abnormal touch/ nociception "change in the ability to sense contact with objects or in the ability to sense pain, most often registered by mechanoreceptors in the skin and mucous membranes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001973 increased thermal nociceptive threshold "a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002063 abnormal learning/memory/conditioning "altered ability to receive, store or recall informational stimuli" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm1Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002578 impaired ability to fire action potentials "anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs" [J:51377, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

 MP:0002690 akinesia "absence of movement or loss of the ability to move such as temporary or prolonged paralysis or "freezing in place"" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:82238]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129S2/SvPasHsd * 129X1/SvJ * C57BL/6J * C57BL/6JOlaHsd

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003257 abnormal abdominal wall "malformation in the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003470 abnormal summary potential "anomaly in the electrophysiological recording of the activity of several cells" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Slc12a5tm1Dlp/Slc12a5+
Genetic Background: involves: C57BL/6J

 MP:0003880 abnormal central pattern generator function "anomalous function of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:101019]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004008 abnormal GABA receptor currents "change in the measured amplitude or duration of response to stimulation of GABA receptors" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxo1tm1Rdp/Foxo1tm1Rdp,Foxo3tm1Rdp/Foxo3tm1Rdp,Foxo4tm1Rdp/Foxo4tm1Rdp,Tg(Ins2-cre)23Herr/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * CBA/J

 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]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005423 abnormal somatic nervous system physiology "anomalous function of any of the cranial and spinal nerves or their ganglia or the peripheral sensory receptors" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129S2/SvPasHsd * 129X1/SvJ * C57BL/6J * C57BL/6JOlaHsd

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
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Allelic Composition: Foxo1tm1Rdp/Foxo1tm1Rdp,Foxo3tm1Rdp/Foxo3tm1Rdp,Foxo4tm1Rdp/Foxo4tm1Rdp,Tg(Ins2-cre)23Herr/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * CBA/J

 MP:0009619 abnormal optokinetic reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the visual system by movement; normally, this reflex functions to stabilize a moving image on the retina" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Wdr19dmhd/Wdr19twto
Genetic Background: involves: FVB/NJ

Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxo1tm1Rdp/Foxo1tm1Rdp,Foxo3tm1Rdp/Foxo3tm1Rdp,Foxo4tm1Rdp/Foxo4tm1Rdp,Tg(Ins2-cre)23Herr/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * CBA/J

Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011039 abnormal vestibuloocular dark reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light" [MGI:smb]
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Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011040 abnormal vestibuloocular light reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run with light" [MGI:smb]
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Allelic Composition: Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj,Gabra6tm2(cre)Wwis/Gabra6+,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * 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: Esx1tm1Bhr/Esx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Tnfsf13btm1Msc/Tnfsf13b+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011617 abnormal habituation "anomaly in the process in which there is a progressive decline of behavioral response probability with a repetitive stimulus" [GO:0046959, PMID:16774787]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129S2/SvPasHsd * 129X1/SvJ * C57BL/6J * C57BL/6JOlaHsd

 MP:0012307 impaired spatial learning "impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:csmith]
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Allelic Composition: Slc12a5tm1Hsav/Slc12a5tm2Hsav
Genetic Background: involves: 129S1/Sv * 129S2/SvPasHsd * 129X1/SvJ * C57BL/6J * C57BL/6JOlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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