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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 aorta morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:29166645 RGD:150520219 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoeem1Ejt apolipoprotein E; TALEN induced mutant 1, Ejt IMP RGD PMID:29166645 RGD:150520219
G Apoeem1Sage apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs IMP RGD PMID:29166645 RGD:150520219
abnormal choroid vasculature morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:17,317,343...17,410,084 JBrowse link
abnormal retinal blood vessel morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 IMP RGD PMID:32833527 RGD:40902996 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Lrp5em1Vari LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em2Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
abnormal retinal blood vessel pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 IMP RGD PMID:32833527 RGD:40902996 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Lrp5em1Vari LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em2Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari IMP RGD PMID:32833527 RGD:40902996
G Lrp5em3Vari LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari IMP RGD PMID:32833527 RGD:40902996
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
abnormal retinal vasculature morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP RGD PMID:17931883 RGD:2303652 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:17931883 RGD:2303652
G Kdr kinase insert domain receptor IDA inhibition significantly reduces retinal neovascularization RGD PMID:15951738 RGD:1581593 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
abnormal vascular development term browser
Symbol Object Name Qualifiers 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 chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
JBrowse link
absent ductus venosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor IMP RGD PMID:23859880 RGD:13204753 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahrem2Sage aryl hydrocarbon receptor; ZFN induced mutant2, Sage IMP RGD PMID:23859880 RGD:13204753
calcified artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein IDA RGD PMID:17138823 RGD:2293588 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
cardiac fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
cardiac hypertrophy term browser
Symbol Object Name Qualifiers 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 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
JBrowse link
G Crebbp CREB binding protein IDA RGD PMID:12477714 RGD:1298794 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Ep300 E1A binding protein p300 IDA RGD PMID:12477714 RGD:1298794 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Igf1 insulin-like growth factor 1 IDA RGD PMID:15996002 RGD:1580474 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Nppb natriuretic peptide B IMP RGD PMID:26063669 RGD:12910116 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nppbem2Mcwi natriuretic peptide B; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:26063669 RGD:12910116
G Npr2 natriuretic peptide receptor 2 IAGP RGD PMID:16537417 RGD:1601488 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha IDA RGD PMID:16799071 RGD:1580700 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta IDA RGD PMID:16496058 RGD:1580703 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
JBrowse link
G Rcan1 regulator of calcineurin 1 IDA RGD PMID:15899894 RGD:1581475 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 IMP RGD PMID:11549339 RGD:1357201 NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
JBrowse link
cardiac interstitial fibrosis 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
JBrowse link
G Ubdem1 ubiquitin D; CRISPR/Cas9 induced mutant1 IMP associated with induced myocardial infarction RGD PMID:29438664 RGD:126925221
decreased angiogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a induces IMP RGD PMID:32324784 RGD:127345089 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr1aem5Mcwi angiotensin II receptor, type 1a; zinc finger nuclease induced mutant 5, Medical College of Wisconsin induces IMP RGD PMID:32324784 RGD:127345089
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) IMP RGD PMID:27389904 RGD:127338472 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
JBrowse link
decreased heart left ventricle weight term browser
Symbol Object Name Qualifiers 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 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
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 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
decreased heart weight term browser
Symbol Object Name Qualifiers 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 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Dmd dystrophin IMP RGD PMID:25310701 RGD:12880034 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
enlarged myocardial fiber term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
heart left ventricle hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A IDA RGD PMID:16157796 RGD:1581830 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:12624003 RGD:1580955 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
increased heart weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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: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:29720683 RGD:13703117
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nppa natriuretic peptide A IMP as compared to the wild-type RGD PMID:24006081 RGD:8662415 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
myocardium steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E IMP RGD PMID:28808185 RGD:13703132 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
thick interventricular septum 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:29720683 RGD:13703117 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:29720683 RGD:13703117
G Myh7b myosin heavy chain 7B IMP RGD PMID:32207065 RGD:126925946 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myh7bem1Blar myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar IMP RGD PMID:32207065 RGD:126925946
thick ventricular wall term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2b adenosine A2B receptor IMP RGD PMID:26385692 RGD:11533328 NCBI chr10:46,940,394...46,956,772
Ensembl chr10:46,940,384...46,956,772
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: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:29720683 RGD:13703117
thin ventricular wall term browser
Symbol Object Name Qualifiers 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 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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 3:61,652,432...61,924,912 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 IMP RGD PMID:25593290 RGD:38500244 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Bmpr2em1Ang bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Ang IMP RGD PMID:25593290 RGD:38500244
G Pld2 phospholipase D2 IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
JBrowse link
G Prkcz protein kinase C, zeta IDA angiotensin II induced RGD PMID:16113073 RGD:1642674 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5298
    cardiovascular system phenotype 1324
      abnormal cardiovascular system morphology 403
        abnormal blood vessel morphology + 105
        abnormal cardiac muscle tissue morphology + 48
        abnormal cardiovascular development + 12
        abnormal heart morphology + 307
        abnormal susceptibility to induced aneurysm formation + 0
        aneurysm + 3
        decreased cardiovascular system tumor incidence 0
        increased cardiovascular system tumor incidence + 0
        peliosis + 0
paths to the root