ENSMUSG00000031173


Mus musculus

Features
Gene ID: ENSMUSG00000031173
  
Biological name :Otc
  
Synonyms : Ornithine carbamoyltransferase, mitochondrial / Otc / P11725
  
Possible biological names infered from orthology : ornithine carbamoyltransferase / P00480
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A1.1
Gene start: 10252305
Gene end: 10321024
  
Corresponding Affymetrix probe sets: 10598612 (MoGene1.0st)   1420525_a_at (Mouse Genome 430 2.0 Array)   1425540_at (Mouse Genome 430 2.0 Array)   1436615_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000056152
Ensembl peptide - ENSMUSP00000111190
NCBI entrez gene - 18416     See in Manteia.
MGI - MGI:97448
RefSeq - XM_011247449
RefSeq - NM_008769
RefSeq Peptide - NP_032795
swissprot - P11725
swissprot - Q543H3
swissprot - Q8R1A8
Ensembl - ENSMUSG00000031173
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 otcENSDARG00000062147Danio rerio
 OTCENSGALG00000016254Gallus gallus
 OTCENSG00000036473Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002292  Ornithine/putrescine carbamoyltransferase
 IPR006130  Aspartate/ornithine carbamoyltransferase
 IPR006131  Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
 IPR006132  Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
 IPR036901  Aspartate/ornithine carbamoyltransferase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000050 urea cycle ISO
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006520 cellular amino acid metabolic process IEA
 biological_processGO:0006526 arginine biosynthetic process IEA
 biological_processGO:0006591 ornithine metabolic process IEA
 biological_processGO:0006593 ornithine catabolic process IEA
 biological_processGO:0007494 midgut development IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0010043 response to zinc ion IEA
 biological_processGO:0019240 citrulline biosynthetic process IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0042450 arginine biosynthetic process via ornithine IBA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0055081 anion homeostasis IEA
 biological_processGO:0070207 protein homotrimerization IEA
 biological_processGO:0070781 response to biotin IEA
 biological_processGO:0097272 ammonia homeostasis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 molecular_functionGO:0004585 ornithine carbamoyltransferase activity ISO
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0016597 amino acid binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016743 carboxyl- or carbamoyltransferase activity IEA
 molecular_functionGO:0042301 phosphate ion binding IEA


Pathways (from Reactome)
Pathway description
Mitochondrial protein import
Urea cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf-ash/Otc+
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Y
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Otcspf/Otcspf
Genetic Background: Not Specified

Allelic Composition: Otcspf-J/Y
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: Otcspf/Otcspf
Genetic Background: involves: CD-1

Allelic Composition: Otcspf-J/Otc+
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0000422 delayed hair appearance "late onset of the first appearance of the fur" [J:17792]
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Allelic Composition: Otcspf/Otcspf
Genetic Background: involves: CD-1

 MP:0000436 abnormal head movements "anomalous motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Myf5tm2Tajb/Myf5+,Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Sun1tm1Mhan/Sun1+,Sun2tm1Mhan/Sun2tm1Mhan
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 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: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 MP:0001038 abnormal cholinergic neuron morphology "malformation or absence of the neurons that utilize acetylcholine as a neurotransmitter " [Principles of Neural Science, 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0001194 dermatitis "inflammation of the skin" [J:65146]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0001211 wrinkled skin "irregular folds and/or indentations on the skin" [J:19212]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Otcspf/Otcspf
Genetic Background: Not Specified

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * 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: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Otcspf/Otcspf
Genetic Background: Not Specified

Allelic Composition: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

Allelic Composition: Otcspf-J/Y
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 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: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Trim63tm2.1Vlcg/Trim63tm2.1Vlcg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001442 decreased grooming behavior "reduced amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 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: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Otcspf/Otcspf
Genetic Background: Not Specified

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0001764 abnormal homeostasis "anomaly in the state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cer1tm1Belo/Cer1tm1Belo,Tdgf1tm1Eda/Tdgf1tm1Eda
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001777 abnormal body temperature regulation "anomalous control of the body s heat" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Myf5tm2Tajb/Myf5+,Tbx1tm1Pa/Tbx1tm1Pa
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 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: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cd3etm1Cpt/Cd3etm1Cpt,Tg(CD3E)26Cpt/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fzr1Gt(3003)Tgen/Fzr1Gt(3003)Tgen
Genetic Background: involves: C57BL/6 * CBA

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Y
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Otcspf
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 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: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: C57BL/6

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0002339 abnormal lymph node morphology "anomalous structure, size, or celluarity of the oval or bean shaped bodies located along the lymphatic system" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0002461 increased circulating immunoglobulin concentration "greater than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0002493 increased IgG "greater than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0002494 increased IgM "greater than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 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: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003009 abnormal cytokine secretion "impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0003415 priapism "prolonged penile erection, often painful and without sexual desire " [smb:Susan M Bello, Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0003806 abnormal nucleotide metabolism "impaired regulation of nucleotide levels in either production or breakdown of these structural components of nucleic acids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 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: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0004000 impaired passive avoidance behavior "decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0005010 abnormal CD8+ T cell morphology/development "anomalous structure, formation, or numbers of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0005027 increased susceptibility to parasitic infection "greater likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by parasites " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cer1tm1Belo/Cer1tm1Belo,Tdgf1tm1Eda/Tdgf1tm1Eda
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005266 abnormal metabolism "anomalous chemical and physical changes occurring in tissue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Otcspf-ash/Otc+
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0005309 increased circulating ammonia level "significantly elevated levels of ammonia or its compounds in blood; often associated with liver failure and hepatic encephalopathy " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83263]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf/Otcspf
Genetic Background: involves: CD-1

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
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Allelic Composition: Otcspf/Otcspf
Genetic Background: involves: CD-1

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Otcspf-J/Y
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Otcspf/Otcspf
Genetic Background: involves: CD-1

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

Allelic Composition: Otcspf-J/Y
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf/Otc+
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008074 increased CD4-positive T cell number "greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008097 increased plasma cell number "greater number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin" [CL:0000786, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 MP:0008414 abnormal spatial reference memory "anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to naviagate or perform other behavior using such locational cues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

 MP:0008428 abnormal spatial working memory "anomaly in the ability to spontaneously process spatial location information in order to naviagate or perform other behavior using such locational cues, without previous encounters or training at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

 MP:0008469 abnormal protein level "anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008560 increased tumor necrosis factor secretion "increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
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Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008699 increased interleukin-4 secretion "increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504]
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Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008705 increased interleukin-6 secretion "increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
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Allelic Composition: Cd4tm1Litt/Cd4tm1Litt,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008735 increased susceptibility to endotoxin shock "more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Otcspf-ash/Y
Genetic Background: B6EiC3Sn a/A-Otcspf-ash/J

 MP:0008751 abnormal interleukin level "deviation from the normal levels of soluble factors which stimulate growth-related activities of leukocytes as well as other cell types; they enhance cell proliferation and differentiation, DNA synthesis, secretion of other biologically active molecules and responses to immune and inflammatory stimuli" [MESH:D12.644.276.374.465]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0008752 abnormal tumor necrosis factor level "deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [MESH:D12.644.276.374.500.800]
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Allelic Composition: B2mtm1Jae/B2mtm1Jae,Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl * 129S2/SvPas

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [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: Otcspf-J/Y
Genetic Background: C57BL/6J-Otcspf-J/J

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [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: Otcspf/Y
Genetic Background: involves: C3H/HeJ * 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: Cer1tm1Belo/Cer1tm1Belo,Tdgf1tm1Eda/Tdgf1tm1Eda
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009969 abnormal cerebral cortex pyramidal cell morphology "any structural anomaly 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: Otcspf/Y
Genetic Background: Not Specified

 MP:0010028 aciduria "excretion of an acid urine" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Y
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Otc+
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Acadsdel-J/Acads+,Otcspf/Y
Genetic Background: involves: BALB/cByJ * CD-1

 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: Foxp3sf Otcspf/Y
Genetic Background: involves: 129/Rl

 MP:0011380 enlarged brain ventricle "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 MP:0011396 abnormal sleep behavior "any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity" [MGI:smb]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

 MP:0011588 decreased ornithine carbamoyltransferase activity "reduced ability to catalyze the reaction: carbamoyl phosphate + L-ornithine = phosphate + L-citrulline" [GO:0004585]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf/Otc+
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

 MP:0011626 orotic acid urinary bladder stones "presence of caliculi, or a solid concretion or crystal aggregation formed from orotic acid, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection" [MGI:csmith]
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Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: 22A/R * C57BL/6J

 MP:0011765 oroticaciduria "increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine" [MGI:anna]
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Allelic Composition: Irs4tm1Lhd/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Otcspf/Otc+
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: Not Specified

Allelic Composition: Otcspf/Y
Genetic Background: involves: CD-1

Allelic Composition: Acadsdel-J/Acads+,Otcspf/Y
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Acadsdel-J/Acadsdel-J,Otcspf/Otcspf
Genetic Background: involves: BALB/cByJ * CD-1

Allelic Composition: Otcspf-ash/Y
Genetic Background: involves: C57BL/6

Allelic Composition: Otcspf-ash/Otc+
Genetic Background: involves: C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031173 Otc / P11725 / Ornithine carbamoyltransferase, mitochondrial / P00480* / ornithine carbamoyltransferase*  / complex






 

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