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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 heart ventricle morphology
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Accession:MP:0005294 term browser browse the term
Definition:any structural anomaly of one or both of the two lower chambers of the heart
Synonyms:exact_synonym: Abnormal cardiac ventricle morphology;   ventricular dysplasia
 narrow_synonym: heart ventricle dysplasia
 xref: HP:0001713


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abnormal aortic valve morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:32710530 RGD:401960103 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
decreased heart left ventricle wall thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin onset IMP compared to Wild type RGD PMID:29979634 RGD:401976416
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 5:155,958,116...155,959,897
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
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 chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Egfr epidermal growth factor receptor IDA RGD PMID:12624003 RGD:1580955 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Lepr leptin receptor treatment IAGP RGD PMID:33568522 RGD:401965412 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		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
G Sod3 superoxide dismutase 3 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 IMP compared to SS/JrHsdMcwi RGD PMID:31972339 RGD:150573712
increased heart left ventricle anterior wall thickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:32710530 RGD:401960103 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
increased heart left ventricle posterior wall thickness 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
increased heart left ventricle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor IAGP DNA:mutations:cds: : (rat) RGD PMID:32710530 RGD:401960103 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
increased heart right ventricle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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:122,038,734...122,087,745
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:122,038,734...122,087,745
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
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
G Ttnem2Sage Titin; zinc finger nuclease induced mutant 2,Sigma Advanced Genetic Engineering Labs IAGP RGD PMID:27869827 RGD:11565821
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5428
    cardiovascular system phenotype 1374
      abnormal cardiovascular system morphology 427
        abnormal heart morphology 331
          abnormal heart ventricle morphology 145
            abnormal heart left ventricle morphology + 108
            abnormal heart right ventricle morphology + 22
            abnormal heart ventricle outflow tract morphology + 2
            abnormal heart ventricle shape 0
            abnormal heart ventricle size + 126
            abnormal heart ventricle wall morphology + 72
            abnormal interventricular groove morphology 0
            abnormal interventricular septum morphology + 8
            abnormal ventricle endocardium morphology 0
            abnormal ventricle myocardium morphology + 0
            dilated heart ventricle + 0
            superior-inferior ventricles 0
            ventricular aneurysm + 0
            ventricular hypoplasia + 1
paths to the root