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
Accession: MP:0005266
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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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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
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Cryba1Nuc1Dbsa
crystallin, beta A1;Nuc1 mutant, Dbsa
IMP
RGD
PMID:21266465
RGD:126925759
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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
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Ercc6em1Cgen
ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
IMP
RGD
PMID:31644904
RGD:126925983
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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
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Tbc1d1Tn(sb)1Fkh
TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh
induces
IMP
RGD
PMID:28808062
RGD:150521563
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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
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Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:28124283
RGD:13703118
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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
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Pmchm1Hubr
pro-melanin-concentrating hormone; ENU induced mutant1, Hubr
IMP
RGD
PMID:23555928
RGD:150429944
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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
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Rbm20m1Mlgw
RNA binding motif protein 20; mutation 1, Marion Greaser
IMP
RGD
PMID:24367651
RGD:126925234
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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
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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
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Park7em1Sage
parkinson protein 7; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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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
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Pink1em1Sage
PTEN induced putative kinase 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
IMP
RGD
PMID:24969022
RGD:13210569
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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
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Gja8m1Cub
gap junction protein, alpha 8; mutant 1 Cub
IAGP
RGD
PMID:27871290
RGD:150429989
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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
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Cybam1Sdi
cytochrome b-245 alpha chain;mutant 1,Sdi
IAGP
DNA:deletion:splice junction:
RGD
PMID:19406829
RGD:11040542
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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
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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
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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
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