ENSMUSG00000023921


Mus musculus

Features
Gene ID: ENSMUSG00000023921
  
Biological name :Mut
  
Synonyms : Methylmalonyl-CoA mutase, mitochondrial / Mut / P16332
  
Possible biological names infered from orthology : methylmalonyl-CoA mutase / P22033
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: B2
Gene start: 40934685
Gene end: 40961989
  
Corresponding Affymetrix probe sets: 10445214 (MoGene1.0st)   1416838_at (Mouse Genome 430 2.0 Array)   1416839_at (Mouse Genome 430 2.0 Array)   1448486_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000130941
NCBI entrez gene - 17850     See in Manteia.
MGI - MGI:97239
RefSeq - NM_008650
RefSeq - XM_017317291
RefSeq Peptide - NP_032676
swissprot - P16332
Ensembl - ENSMUSG00000023921
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mutENSDARG00000060554Danio rerio
 MUTENSGALG00000016697Gallus gallus
 MUTENSG00000146085Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006098  Methylmalonyl-CoA mutase, alpha chain, catalytic
 IPR006099  Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
 IPR006158  Cobalamin (vitamin B12)-binding domain
 IPR006159  Methylmalonyl-CoA mutase, C-terminal
 IPR016176  Cobalamin (vitamin B12)-dependent enzyme, catalytic
 IPR036724  Cobalamin-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0050667 homocysteine metabolic process IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0004494 methylmalonyl-CoA mutase activity ISO
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0016866 intramolecular transferase activity IEA
 molecular_functionGO:0031419 cobalamin binding ISO
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0072341 modified amino acid binding IEA


Pathways (from Reactome)
Pathway description
Cobalamin (Cbl, vitamin B12) transport and metabolism
Propionyl-CoA catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Cyp1a2/Cyp1a1tm1.1Bra/Cyp1a2/Cyp1a1tm1.1Bra
Genetic Background: B6.129-Cyp1a2/Cyp1a1tm1.1Bra

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0001182 lung hemorrhage "bleeding in the respiratory organs" [J:66345]
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Allelic Composition: Cyp1a2/Cyp1a1tm1.1Bra/Cyp1a2/Cyp1a1tm1.1Bra
Genetic Background: B6.129-Cyp1a2/Cyp1a1tm1.1Bra

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Cyp1a2/Cyp1a1tm1.1Bra/Cyp1a2/Cyp1a1tm1.1Bra
Genetic Background: B6.129-Cyp1a2/Cyp1a1tm1.1Bra

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * 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: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Vps52tm1.1Kab/Vps52tm1.2Kab,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL * C57BL/6 * CBA * DBA

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 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: Degs1Gt(OST368559)Lex/Degs1+
Genetic Background: involves: 129S5/SvEvBrd

 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: Degs1Gt(OST368559)Lex/Degs1+
Genetic Background: involves: 129S5/SvEvBrd

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Cyp1a2/Cyp1a1tm1.1Bra/Cyp1a2/Cyp1a1tm1.1Bra
Genetic Background: B6.129-Cyp1a2/Cyp1a1tm1.1Bra

Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002176 high brain weight "greater than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 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: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003017 decreased circulating bicarbonate level "reduced concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0003019 increased circulating chloride level "elevated concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0003030 acidemia "increased concentration of H-ion in the blood or a fall below normal in pH" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0003031 acidosis "a pathological state characterized by an increase in the hydrogen ion concentration of arterial blood; caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Vps52tm1.1Kab/Vps52tm1.2Kab,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL * C57BL/6 * CBA * DBA

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003620 decreased urine output "decreased volume of urine produced and excreted" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003979 increased circulating carnitine level "greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0005217 abnormal pancreatic beta cell morphology "malformation of the cells of the pancreas that secrete insulin" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0005220 abnormal exocrine pancreas morphology "malformation of the acinar gland portion of the pancreas that secretes digestive enzymes " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 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: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005280 abnormal fatty acid level "anomalous concentration of organic, monobasic acids derived from hydrocarbons and which are complexed with serum albumin for transport; they are saturated and unsaturated" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005441 hypercalciuria "excretion of abnormally large amounts of calcium in the urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:86949]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005528 decreased glomerular filtration rate "less than the normal volume of water filtered out of the plasma through glomerular capillary walls into thte Bowman s capsule per unit time" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005619 increased potassium excretion "greater than the normal amount of this alkaline metallic element, the most abundant intracellular ion, voided by the kidneys" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006316 increased urine sodium level "higher than normal concentration of sodium in the urine" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0008986 abnormal liver parenchyma morphology "any structural anomaly of the functional units of the liver including the lobules" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

 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: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0010028 aciduria "excretion of an acid urine" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT)AHlps/0,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Muttm1.1Mrb/Muttm1.1Mrb
Genetic Background: involves: C57BL/6

Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0010107 abnormal renal reabsorption "any anomaly in the two-step process beginning with the active or passive extraction of substances (such as water, glucose, oligopeptides, amino acids, sodium (Na+) and other ions) from the renal tubule fluid into the renal interstitium, and the subsequent transport of these substances out of the renal interstitium back into the bloodstream; reabsorption begins in the proximal convoluted tubules and continues in the loop of Henle, distal convoluted tubules, and collecting tubules" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0010955 abnormal respiratory electron transport chain "anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient" [GO:0022904]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0010958 abnormal tricarboxylic acid cycle "any anomaly in the universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes; the acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle" [GO:0006099]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 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: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 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: Muttm1Cpv/Muttm1Cpv
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 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: Epha4tm5Kln/Epha4tm5Kln
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Muttm1Pai/Muttm1Pai,Tg(MUT*R403X)#Hlps/0
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv
Genetic Background: Not Specified

 MP:0011405 tubulointerstitial nephritis "diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease" [MGI:anna]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0011435 increased urine magnesium level "higher than normal amount of magnesium in the urine" [MGI:anna]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011459 increased urine chloride ion level "abnormally large amounts of chloride ion in the urine" [MGI:csmith]
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011635 abnormal mitochondrial crista morphology "Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria" [GO:0030061]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0011637 abnormal mitochondrial matrix morphology "any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation" [GO:0005759]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

 MP:0012230 abnormal sphingolipid level 
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Allelic Composition: Muttm1Pai/Muttm1.1Mrb
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0012551 metabolic acidosis "decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease" [ISBN:0-683-40008-8]
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Allelic Composition: Muttm1Cpv/Muttm1Cpv,Tg(Alb-Mut)#Cpv/0
Genetic Background: involves: C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000023921 Mut / P16332 / Methylmalonyl-CoA mutase, mitochondrial / P22033* / methylmalonyl-CoA mutase*  / complex
 ENSMUSG00000037022 Mmaa / Q8C7H1 / Methylmalonic aciduria type A homolog, mitochondrial / Q8IVH4* / methylmalonic aciduria (cobalamin deficiency) cblA type*  / complex






 

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