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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 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
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 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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
abnormal DNA methylation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IMP RGD PMID:32051532 RGD:126925233 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt1tm1(Myh6-cre)Cqin DNA methyltransferase 1; tm1(Myh6-cre), Cqin IMP RGD PMID:32051532 RGD:126925233
abnormal fat cell differentiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pparg peroxisome proliferator-activated receptor gamma IAGP RGD PMID:27381370 RGD:127285618 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargm1Kyo peroxisome proliferator-activated receptor gamma; ENU induced mutant 1, Kyo IAGP RGD PMID:27381370 RGD:127285618
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 chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887 		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: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
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 chr17:4,905,291...4,917,955
Ensembl chr17:4,905,287...4,917,955 		JBrowse link
abnormal retina 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 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
decreased cardiomyocyte apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rl2 interleukin 1 receptor-like 2 IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667 		JBrowse link
G Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167
decreased cell death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkdc protein kinase, DNA-activated, catalytic subunit IMP RGD PMID:30485360 RGD:39938998 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		JBrowse link
G Prkdcem1Sage protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage IMP RGD PMID:30485360 RGD:39938998
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 chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
decreased muscle cell glucose uptake 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 compared to Wild type 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 compared to Wild type RGD PMID:28808062 RGD:150521563
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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
decreased retina apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:15721615 RGD:126925760 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:15721615 RGD:126925760
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 susceptibility to neuronal excitotoxicity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha IMP RGD PMID:16837598 RGD:13506279 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
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 chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263 		JBrowse link
G Cd247em1Mcwi Cd247 molecule; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:24343121 RGD:13442481
increased apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 IMP RGD PMID:31771992 RGD:150521527 NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc39em1Jgn coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn IMP RGD PMID:31771992 RGD:150521527
G Psen1 presenilin 1 IDA RGD PMID:11895366 RGD:1304239 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Tbc1d1 TBC1 domain family member 1 IMP RGD PMID:28177704 RGD:150521607 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 IMP RGD PMID:28177704 RGD:150521607
increased cardiomyocyte apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubd ubiquitin D IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221 NCBI chr20:1,385,487...1,387,438
Ensembl chr20:1,385,864...1,408,639
Ensembl chr20:1,385,864...1,408,639 		JBrowse link
G Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221
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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ednrb endothelin receptor type B IMP RGD PMID:18683040 RGD:4892578 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Lpin1 lipin 1 IMP RGD PMID:21715287 RGD:38599010 NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
increased cellular sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP compared to SD RGD PMID:28834365 RGD:14995504 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp53em1Sage tumor protein p53; ZFN induced mutant 1, Sage IMP compared to SD RGD PMID:28834365 RGD:14995504
increased cellular sensitivity to ultraviolet irradiation 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
increased endoplasmic reticulum stress term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tg thyroglobulin IAGP DNA:missense mutation:cds:p.G2320R (rat) RGD PMID:11089535 RGD:730133 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP compared to wild type and heterozygotes RGD PMID:11089535 RGD:730133
G Wfs1 wolframin ER transmembrane glycoprotein onset
treatment		 IMP RGD PMID:28860598 PMID:29976929 RGD:149735331, RGD:150519890 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset
treatment		 IMP RGD PMID:28860598 PMID:29976929 RGD:149735331, RGD:150519890
increased fatty acid oxidation 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
increased kidney apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter IMP RGD PMID:35695380 RGD:155630629 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
increased male germ cell apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP RGD PMID:28834365 RGD:14995504 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wwox WW domain-containing oxidoreductase IAGP compared to wild type and heterozygotes RGD PMID:18676360 RGD:150429974 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Wwoxlde WW domain-containing oxidoreductase; lde mutant IAGP compared to wild type and heterozygotes RGD PMID:18676360 RGD:150429974
increased mammary gland epithelial cell proliferation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B IMP RGD PMID:30893315 RGD:126908018 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
increased retina 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 chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
increased T cell apoptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pon1 paraoxonase 1 IMP compared to SD RGD PMID:30262871 RGD:45073131 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon1em1Lizh paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh IMP compared to SD RGD PMID:30262871 RGD:45073131
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 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329 		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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		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 chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:30733544 RGD:25823141
G Ddah1 dimethylarginine dimethylaminohydrolase 1 exacerbates IMP RGD PMID:31402164 RGD:151347602 NCBI chr 2:234,667,499...234,800,322
Ensembl chr 2:234,667,491...234,799,339 		JBrowse link
G Ddah1em1Ywxu dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu exacerbates IMP RGD PMID:31402164 RGD:151347602
G Il1rl2 interleukin 1 receptor-like 2 IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167 NCBI chr 9:42,591,658...42,639,351
Ensembl chr 9:42,591,934...42,636,667 		JBrowse link
G Il1rl2tm1(Myh6-cre)Mhzh interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh IMP compared to Wild Type in cardiopulmonary bypass model RGD PMID:32048631 RGD:126925167
G Nox4 NADPH oxidase 4 severity IMP RGD PMID:26644237 RGD:11085830 NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406 		JBrowse link
G Nox4em2Mcwi NADPH oxidase 4; zinc finger nuclease induced mutant 2, Medical College of Wisconsin severity IMP RGD PMID:26644237 RGD:11085830
G Pon1 paraoxonase 1 IMP compared to SD RGD PMID:30262871 RGD:45073131 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon1em1Lizh paraoxonase 1; CRISPR/Cas9 induced mutant 1, Lizh IMP compared to SD RGD PMID:30262871 RGD:45073131
G Sod3 superoxide dismutase 3 onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Sod3m1Mcwi superoxide dismutase 3; mutation 1, Medical College of Wisconsin onset IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
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 chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5380
    cellular phenotype 176
      abnormal cell physiology 139
        abnormal DNA-templated transcription 0
        abnormal autophagy + 7
        abnormal cell adhesion + 0
        abnormal cell cycle + 0
        abnormal cell death + 58
        abnormal cell differentiation + 3
        abnormal cell motility + 3
        abnormal cell proliferation + 25
        abnormal cellular cholesterol metabolism + 1
        abnormal cellular glucose uptake + 14
        abnormal cellular replicative senescence + 0
        abnormal cellular respiration + 4
        abnormal cilium physiology + 0
        abnormal epigenetic regulation of gene expression + 3
        abnormal fibroblast physiology + 1
        abnormal germ cell physiology + 4
        abnormal hepatoblast physiology + 0
        abnormal intestinal goblet cell physiology 0
        abnormal intracellular organelle physiology + 16
        abnormal lipid oxidation + 5
        abnormal neural crest cell physiology + 0
        abnormal osteoblast physiology + 0
        abnormal redox activity + 30
        abnormal vesicle-mediated transport + 1
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