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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal metabolism
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Accession:MP:0005266 term browser browse the term
Definition:any anomaly in the processes that cause many of the chemical changes in living organisms, including anabolism and catabolism; metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation
Synonyms:exact_synonym: abnormal metabolic process;   metabolic abnormalities


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abnormal autophagy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:21266465 RGD:126925759 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:21266465 RGD:126925759
abnormal base-excision repair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor IMP RGD PMID:31644904 RGD:126925983 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc6em1Cgen ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen IMP RGD PMID:31644904 RGD:126925983
abnormal carbohydrate metabolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d1 TBC1 domain family member 1 induces IMP RGD PMID:28808062 RGD:150521563 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499 		JBrowse link
G Tbc1d1Tn(sb)1Fkh TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh induces IMP RGD PMID:28808062 RGD:150521563
abnormal mitophagy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118
decreased adipose tissue noradrenaline turnover term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmch pro-melanin-concentrating hormone IMP RGD PMID:23555928 RGD:150429944 NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250 		JBrowse link
G Pmchm1Hubr pro-melanin-concentrating hormone; ENU induced mutant1, Hubr IMP RGD PMID:23555928 RGD:150429944
decreased aerobic running capacity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm20 RNA binding motif protein 20 IMP RGD PMID:24367651 RGD:126925234 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Rbm20m1Mlgw RNA binding motif protein 20; mutation 1, Marion Greaser IMP RGD PMID:24367651 RGD:126925234
decreased angiotensin I-converting enzyme activity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IAGP DNA:repeat:intron:IVS13+40(CA)?-26 RGD PMID:9484988 RGD:8157602 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
decreased brain tyrosine 3-monooxygenase activity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Park7em1Sage parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
G Pink1 PTEN induced kinase 1 IMP RGD PMID:24969022 RGD:13210569 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pink1em1Sage PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:24969022 RGD:13210569
decreased glutathione peroxidase activity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 IAGP RGD PMID:27871290 RGD:150429989 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:27871290 RGD:150429989
decreased NAD(P)H oxidase activity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829 RGD:11040542 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP DNA:deletion:splice junction: RGD PMID:19406829 RGD:11040542
G Ncf2 neutrophil cytosolic factor 2 induces IMP compared to wild-type littermates RGD PMID:22326221 PMID:22326221 RGD:9587793, RGD:9587793 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1,Mcwi induces IMP compared to wild-type littermates RGD PMID:22326221 PMID:22326221 RGD:9587793, RGD:9587793
increased angiotensin I-converting enzyme activity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IAGP DNA:insertion:intron:IVS16ins287 RGD PMID:16229862 RGD:8157605 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
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