ENSMUSG00000004319


Mus musculus

Features
Gene ID: ENSMUSG00000004319
  
Biological name :Clcn3
  
Synonyms : Clcn3 / H(+)/Cl(-) exchange transporter 3 / P51791
  
Possible biological names infered from orthology : chloride voltage-gated channel 3 / P51790
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: B3.1
Gene start: 60910389
Gene end: 60983300
  
Corresponding Affymetrix probe sets: 10578810 (MoGene1.0st)   1416610_a_at (Mouse Genome 430 2.0 Array)   1433486_at (Mouse Genome 430 2.0 Array)   1433487_at (Mouse Genome 430 2.0 Array)   1438366_x_at (Mouse Genome 430 2.0 Array)   1441248_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000058648
Ensembl peptide - ENSMUSP00000105930
Ensembl peptide - ENSMUSP00000105931
Ensembl peptide - ENSMUSP00000004430
Ensembl peptide - ENSMUSP00000091202
NCBI entrez gene - 12725     See in Manteia.
MGI - MGI:103555
RefSeq - XM_017312553
RefSeq - NM_007711
RefSeq - NM_173873
RefSeq - NM_173874
RefSeq - NM_173876
RefSeq - XM_006509259
RefSeq - XM_006509260
RefSeq - XM_017312552
RefSeq Peptide - NP_776301
RefSeq Peptide - NP_031737
RefSeq Peptide - NP_776298
RefSeq Peptide - NP_776299
swissprot - Q8K4W8
swissprot - E9Q2I1
swissprot - P51791
swissprot - Q3TF45
swissprot - Q790S0
Ensembl - ENSMUSG00000004319
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 clcn3ENSDARG00000003269Danio rerio
 CLCN3ENSGALG00000009674Gallus gallus
 CLCN3ENSG00000109572Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Clcn5 / Q9WVD4 / H(+)/Cl(-) exchange transporter 5 / P51795* / chloride voltage-gated channel 5*ENSMUSG0000000431768
Clcn4 / Q61418 / Mus musculus chloride channel, voltage-sensitive 4 (Clcn4), transcript variant 7, mRNA. / P51793* / chloride voltage-gated channel 4*ENSMUSG0000000060566
Clcn7 / O70496 / H(+)/Cl(-) exchange transporter 7 / P51798* / chloride voltage-gated channel 7*ENSMUSG0000003663626
Clcn6 / O35454 / Chloride transport protein 6 / P51797* / chloride voltage-gated channel 6*ENSMUSG0000002901625
Clcn1 / Q64347 / Chloride channel protein 1 / P35523* / chloride voltage-gated channel 1*ENSMUSG0000002986221
Clcn2 / Q9R0A1 / Chloride channel protein 2 / P51788* / chloride voltage-gated channel 2*ENSMUSG0000002284321
Clcnka / Q9WUB7 / Chloride channel protein ClC-Ka / CLCNKB* / P51800* / P51801* / chloride voltage-gated channel Kb* / chloride voltage-gated channel Ka*ENSMUSG0000003377018
Q9WUB6 / Clcnkb / Chloride channel protein ClC-Kb / CLCNKA* / P51800* / P51801* / chloride voltage-gated channel Ka* / chloride voltage-gated channel Kb*ENSMUSG0000000621617


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001807  Chloride channel, voltage gated
 IPR002245  Chloride channel ClC-3
 IPR014743  Chloride channel, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006911 phagocytosis, engulfment IMP
 biological_processGO:0008344 adult locomotory behavior IMP
 biological_processGO:0035249 synaptic transmission, glutamatergic IMP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0045794 negative regulation of cell volume ISO
 biological_processGO:0051932 synaptic transmission, GABAergic IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070050 neuron cellular homeostasis IMP
 biological_processGO:0097401 synaptic vesicle lumen acidification IMP
 biological_processGO:1902476 chloride transmembrane transport ISO
 biological_processGO:1903428 positive regulation of reactive oxygen species biosynthetic process IMP
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0008021 synaptic vesicle ISO
 cellular_componentGO:0009897 external side of plasma membrane ISO
 cellular_componentGO:0012506 vesicle membrane ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030141 secretory granule ISO
 cellular_componentGO:0030658 transport vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle ISO
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0031902 late endosome membrane TAS
 cellular_componentGO:0042581 specific granule ISO
 cellular_componentGO:0043679 axon terminus IDA
 cellular_componentGO:0045335 phagocytic vesicle ISO
 cellular_componentGO:0060077 inhibitory synapse ISO
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005247 voltage-gated chloride channel activity IBA
 molecular_functionGO:0005254 chloride channel activity ISO
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015297 antiporter activity TAS
 molecular_functionGO:0030165 PDZ domain binding ISO
 molecular_functionGO:0046982 protein heterodimerization activity ISO
 molecular_functionGO:0072320 volume-sensitive chloride channel activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000010 abnormal abdominal fat pads "malformed or aberrant size of the encapsulated adipose tissue in the abdomen" [J:65146]
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Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

 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: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000811 hippocampal neuron degeneration "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:72427]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001408 stereotypic behavior "repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s wrong with my mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001413 abnormal response to new environment "altered investigative behavior from controls in reactions associated with placing an animal in a new location" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001900 impaired synaptic plasticity "decreased or inability of the nervous system to change its reactivity as a result of successive activations " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002001 blindness "loss of the sense of sight" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bace1tm1Pcw/Bace1+,Tg(APP695)3Dbo/0,Tg(PSEN1dE9)S9Dbo/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J

 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: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hba/Nprl3tm1Wgw/Hba/Nprl3tm1Wgw
Genetic Background: involves: 129P2/OlaHsd

 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: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002463 abnormal neutrophil physiology "abnormal function of these granular leukocytes, which stain with neutral dyes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0002467 impaired neutrophil phagocytosis "reduced ability of these leukocytes to internalize particulate matter" [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: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0002581 abnormal ileum morphology "malformation of the portion of the small intestine that extends from the jejunum to the colon" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:70183]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0002833 increased heart weight "greater than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0002887 resistance to pharmacologically induced seizures "ability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:77284]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential 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: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0003246 loss of GABA neurons "loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003632 abnormal nervous system morphology 
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003691 abnormal microglial cell function "anomalous activity of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004215 abnormal myocardial fiber physiology "anomaly in the function of the multinucleated muscle cells of the heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0004769 abnormal synaptic vesicle morphology "any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005044 sepsis "presence of various pathogenic organisms, or their toxins, in the blood or tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:82434]
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Allelic Composition: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

 MP:0006138 congestive heart failure "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0006300 abnormal entorhinal cortex morphology "any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus" [brs:Beverly Richards-Smith_IMSR Curator]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009745 abnormal behavioral response to xenobiotic "any anomaly in the behavioral response induced by a foreign compound, such as consumption preference, induced hyperactivity or stereotypic behavior" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009746 enhanced behavioral response to xenobiotic "increased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or reduced dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Basp1tm2(Gap43)Crni/Basp1tm2(Gap43)Crni
Genetic Background: Not Specified

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Tjj/Clcn3tm1Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009971 decreased hippocampus pyramidal cell number "decreased number of the projection neurons in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009974 decreased cerebral cortex pyramidal cell number "reduced number of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0010633 myocardial hypertrophy "an increase in size of the myocardium, not due to increased cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 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: Clcn3tm1Lamb/Clcn3tm1Lamb
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011445 abnormal renal protein reabsorption "any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron" [GO:0097017]
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Allelic Composition: Lcktm1Mak/Lcktm1Mak
Genetic Background: B6.129S2-Lcktm1Mak

 MP:0011925 abnormal heart echocardiography feature "any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features" [MPD:Molly]
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Allelic Composition: Clcn3tm1.1Jrhm/Clcn3tm1.1Jrhm,Tg(Myh6-tTA)6Smbf/0,Tg(tetO-cre)3Jig/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

 MP:0030003 hippocampus atrophy "acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change" [MGI:anna]
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Allelic Composition: Cd8atm1Mak/Cd8atm1Mak,Zbtb7bhd/Zbtb7bhd
Genetic Background: involves: B6.129S2-Cd8atm1Mak * B6.Cg-Thpokhd

  


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






 

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