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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 cell physiology
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Accession:MP:0005621 term browser browse the term
Definition:any functional anomaly of the vital processes of the cell


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abnormal apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone IDA RGD PMID:11908464 RGD:704423 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
abnormal cellular respiration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22842522 RGD:7207891 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
abnormal mitochondrial physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrs2 magnesium transporter MRS2 IMP DNA:missense mutation:intron (Mrs2) RGD PMID:21253565 RGD:12793070 NCBI chr17:42,064,271...42,083,602
Ensembl chr17:42,064,376...42,082,300
JBrowse link
G Mrs2dmyKyo MRS2 magnesium transporter; demyelination mutant, Kyo IMP DNA:missense mutation:intron (Mrs2) RGD PMID:21253565 RGD:12793070
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:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:28124283 RGD:13703118
abnormal respiratory electron transport chain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isca1 iron-sulfur cluster assembly 1 IMP RGD PMID:31016283 RGD:39131292 NCBI chr17:5,281,727...5,294,386
Ensembl chr17:5,281,727...5,294,384
JBrowse link
abnormal retinal apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase IDA RGD PMID:14988264 RGD:1358731 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
decreased chondrocyte proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Golgb1 golgin B1 IAGP RGD PMID:21851869 RGD:40902994 NCBI chr11:66,761,646...66,819,115
Ensembl chr11:66,761,584...66,819,079
JBrowse link
decreased fibroblast proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22842522 RGD:7207891 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
decreased neuron apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IMP RGD PMID:18683040 RGD:4892578 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
decreased sperm progressive motility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Defb23em2MlitDefb26em2Mlit defensin beta 23, defensin beta 26; CRISPR/Cas9 induced mutant2, Mlit IMP RGD PMID:29141997 RGD:13782190
decreased T cell proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd247 Cd247 molecule IMP compared to wild-type RGD PMID:24343121 RGD:13442481 NCBI chr13:83,996,045...84,071,408
Ensembl chr13:83,996,080...84,071,400
JBrowse link
G Cd247em1Mcwi Cd247 molecule; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:24343121 RGD:13442481
impaired acrosome reaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acr acrosin IMP RGD PMID:28859281 RGD:13464336 NCBI chr 7:130,541,320...130,548,356
Ensembl chr 7:130,542,202...130,548,356
JBrowse link
increased apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 IDA RGD PMID:11895366 RGD:1304239 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
increased cell proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 IDA RGD PMID:12668975 RGD:704417 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:18683040 RGD:4892578 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Lpin1 lipin 1 IMP RGD PMID:21715287 RGD:38599010 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Lpin1m1Hubr lipin 1; ENU induced mutant 1, Hubr IMP compared to Wild type RGD PMID:21715287 RGD:38599010
increased cellular glucose import term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor IMP RGD PMID:22842522 RGD:7207891 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
increased retinal apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B IMP compared to wild-type RGD PMID:31009522 RGD:40924664 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
increased T cell proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Themis thymocyte selection associated IAGP DNA:frameshift mutation: RGD PMID:22275874 RGD:38599149 NCBI chr 1:17,152,973...17,378,225
Ensembl chr 1:17,171,631...17,378,047
JBrowse link
G Themism1Adej thymocyte selection associated; mutant1, Adej IAGP compared to BN RGD PMID:22275874 RGD:38599149
oxidative stress term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase IMP DNA:deletion:exon: RGD PMID:28007901 RGD:12879399 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atp7b ATPase copper transporting beta IAGP compared to LEA/Hok RGD PMID:30733544 RGD:25823141 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:30733544 RGD:25823141
G Nox4 NADPH oxidase 4 severity IMP RGD PMID:26644237 RGD:11085830 NCBI chr 1:150,796,359...150,976,186
Ensembl chr 1:150,797,084...150,976,194
JBrowse link
G Nox4em2Mcwi NADPH oxidase 4; zinc finger nuclease induced mutant 2, Medical College of Wisconsin severity IMP RGD PMID:26644237 RGD:11085830
premature acrosome reaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Defb23em2MlitDefb26em2Mlit defensin beta 23, defensin beta 26; CRISPR/Cas9 induced mutant2, Mlit IMP RGD PMID:29141997 RGD:13782190
tail necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5069
    cellular phenotype 97
      abnormal cell physiology 77
        abnormal DNA repair + 0
        abnormal DNA replication 0
        abnormal DNA-templated transcription 0
        abnormal autophagy + 4
        abnormal cell adhesion + 0
        abnormal cell cycle + 0
        abnormal cell death + 22
        abnormal cell differentiation + 0
        abnormal cell motility + 3
        abnormal cell proliferation + 19
        abnormal cellular cholesterol metabolism + 1
        abnormal cellular glucose uptake + 11
        abnormal cellular replicative senescence + 0
        abnormal cellular respiration + 3
        abnormal chromosome stability + 0
        abnormal cilium physiology + 0
        abnormal endoplasmic reticulum physiology + 0
        abnormal epigenetic regulation of gene expression + 0
        abnormal fibroblast physiology + 1
        abnormal germ cell physiology + 0
        abnormal hepatoblast physiology + 0
        abnormal lipid oxidation + 2
        abnormal lysosome physiology + 0
        abnormal mitochondrial physiology + 5
        abnormal osteoblast physiology + 0
        abnormal peroxisome physiology 0
        abnormal redox activity + 15
        abnormal translation + 0
        abnormal vesicle-mediated transport + 6
paths to the root