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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 cardiovascular system morphology
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Accession:MP:0002127 term browser browse the term
Definition:any structural anomaly of the heart or vascular tissue
Synonyms:exact_synonym: cardiovascular dysplasia;   cardiovascular system abnormalities;   cardiovascular system defects;   cardiovascular system dysplasia;   heart/cardiovascular system: dysmorphology
 alt_id: MP:0000177
 xref: MGI:2173587


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abnormal choroid vasculature morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
abnormal retinal vasculature morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor IDA inhibition significantly reduces retinal neovascularization RGD PMID:15951738 RGD:1581593 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
abnormal vascular development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IAGP DNA:insertion:exon RGD PMID:17931883 RGD:2303652 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
calcified artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein IDA RGD PMID:17138823 RGD:2293588 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
cardiac hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1b angiotensin II receptor, type 1b TAS RGD PMID:12446719 RGD:629553 NCBI chr 2:105,149,020...105,224,335
Ensembl chr 2:105,149,020...105,224,295
JBrowse link
G Crebbp CREB binding protein IDA RGD PMID:12477714 RGD:1298794 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ep300 E1A binding protein p300 IDA RGD PMID:12477714 RGD:1298794 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Igf1 insulin-like growth factor 1 IDA RGD PMID:15996002 RGD:1580474 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Nppb natriuretic peptide B IMP RGD PMID:26063669 RGD:12910116 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npr2 natriuretic peptide receptor 2 IAGP RGD PMID:16537417 RGD:1601488 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha IDA RGD PMID:16799071 RGD:1580700 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta IDA RGD PMID:16496058 RGD:1580703 NCBI chr15:4,209,702...4,236,895
Ensembl chr15:4,209,703...4,236,895
JBrowse link
G Rcan1 regulator of calcineurin 1 IDA RGD PMID:15899894 RGD:1581475 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 IMP RGD PMID:11549339 RGD:1357201 NCBI chr 2:218,654,406...218,658,761
Ensembl chr 2:218,654,554...218,658,761
JBrowse link
decreased heart left ventricle weight term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 IMP RGD PMID:31327268 RGD:18899561 NCBI chr 5:156,876,706...156,878,486
Ensembl chr 5:156,876,706...156,878,486
JBrowse link
G Camk2n1em1Tja calcium/calmodulin-dependent protein kinase II inhibitor 1; ZFN induced mutant 1, Tja IMP RGD PMID:31327268 RGD:18899561
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IAGP RGD PMID:11832364 RGD:727991 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
decreased heart weight term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 IMP as compared to the wild-type RGD PMID:24006081 RGD:8662415 NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
JBrowse link
G Dmd dystrophin IMP RGD PMID:25310701 RGD:12880034 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
heart left ventricle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IDA RGD PMID:16157796 RGD:1581830 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:12624003 RGD:1580955 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
increased heart weight term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 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:29720683 RGD:13703117
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP RGD PMID:24400148 RGD:13825242
G Mthfr methylenetetrahydrofolate reductase IMP as compared to the wild-type RGD PMID:24006081 RGD:8662415 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nppa natriuretic peptide A IMP as compared to the wild-type RGD PMID:24006081 RGD:8662415 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
myocardium steatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:28808185 RGD:13703132 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
thick interventricular septum term browser
Symbol Object Name 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:29720683 RGD:13703117 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:29720683 RGD:13703117
thick ventricular wall term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2b adenosine A2B receptor IMP RGD PMID:26385692 RGD:11533328 NCBI chr10:48,569,563...48,586,366
Ensembl chr10:48,569,555...48,586,365
JBrowse link
G Adora2bem2Mcwi adenosine A2B receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:26385692 RGD:11533328
G Lamp2 lysosomal-associated membrane protein 2 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117 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:29720683 RGD:13703117
thin ventricular wall term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP As compared to SS parents RGD PMID:23185005 RGD:9685162 NCBI chr 1:35,067,268...35,200,530
Ensembl chr 1:35,067,490...35,198,939
JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP As compared to SS parents RGD PMID:23185005 RGD:9685162
G Ttn titin IAGP RGD PMID:27869827 RGD:11565821 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttnem2Sage Titin; zinc finger nuclease induced mutant 2,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
vascular smooth muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld2 phospholipase D2 IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr10:57,161,921...57,181,148
Ensembl chr10:57,163,174...57,179,730
JBrowse link
G Prkcz protein kinase C, zeta IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 4973
    cardiovascular system phenotype 1241
      abnormal cardiovascular system morphology 343
        abnormal blood vessel morphology + 72
        abnormal cardiac muscle tissue morphology + 37
        abnormal cardiovascular development + 8
        abnormal heart morphology + 275
        aneurysm + 1
        decreased cardiovascular system tumor incidence 0
        increased cardiovascular system tumor incidence + 0
        peliosis + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.