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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 blood vessel physiology
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Accession:MP:0000249 term browser browse the term
Definition:any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins
Synonyms:exact_synonym: abnormal blood vessel function;   blood vessel defects;   blood vessel physiology abnormalities


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abnormal blood-brain barrier function term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IMP RGD PMID:22049154 RGD:8657330 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcb1aem2Sage ATP binding cassette subfamily B member 1A; ZFN induced mutant 2, Sage IMP RGD PMID:22049154 RGD:8657330
G Abcc2 ATP binding cassette subfamily C member 2 IAGP RGD PMID:12663688 RGD:704399 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12663088 RGD:704425 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
abnormal blood-cerebrospinal fluid barrier function term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
abnormal vascular wound healing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spon2 spondin 2 IMP RGD PMID:25751394 RGD:329328927 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Spon2em1Holi spondin 2; TALEN induced mutant1, Holi IMP RGD PMID:25751394 RGD:329328927
abnormal vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr182 G protein-coupled receptor 182 IDA RGD PMID:7592696 RGD:61533 NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP RGD PMID:26637559 RGD:11344212 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfe2l2em1Mcwi nuclear factor, erythroid 2-like 2; TALEN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:26637559 RGD:11344212
G Sod3 superoxide dismutase 3 IMP DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929 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 RGD PMID:24322611 RGD:38548929
decreased vascular permeability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 IMP RGD PMID:32029431 RGD:150340736 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ameliorates IMP associated with Experimental Diabetes Mellitus, compared to wild type SS RGD PMID:37643020 RGD:401827835 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp2em2Mcwi matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin ameliorates IMP associated with Experimental Diabetes Mellitus, compared to wild type SS RGD PMID:37643020 RGD:401827835
decreased vasoconstriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 induces IMP compared to WT RGD PMID:32029431 RGD:150340736 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Add3em1Mcwi adducin 3; ZFN induced mutant1, Mcwi induces IMP compared to wild-type RGD PMID:32029431 RGD:150340736
G Add3em2Mcwi adducin 3; ZFN induced mutant2, Mcwi induces IMP compared to WT RGD PMID:32029431 RGD:150340736
G Dusp5 dual specificity phosphatase 5 IMP compared to FHH.1BN RGD PMID:25397684 RGD:13446412 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818 		JBrowse link
G Dusp5em1Mcwi dual specificity phosphatase 5; ZFN induced mutant1, Mcwi IMP compared to FHH.1BN RGD PMID:25397684 RGD:13446412
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 Slc6a4 solute carrier family 6 member 4 IMP RGD PMID:18263707 RGD:4889513 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
decreased vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk3 potassium two pore domain channel subfamily K member 3 IMP RGD PMID:31347976 RGD:151347452 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Kcnk3em1Ang potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang IMP RGD PMID:31347976 RGD:151347452
G Mir29b1 microRNA 29b-1 IMP RGD PMID:29374012 RGD:13702880 NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067 		JBrowse link
G Mir29b1em1Mcwi microRNA 29b-1; TALEN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:29374012 RGD:13702880
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP compared to SD RGD PMID:26637559 RGD:11344212 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfe2l2em1Mcwi nuclear factor, erythroid 2-like 2; TALEN induced mutant 1, Medical College of Wisconsin IMP compared to SD RGD PMID:26637559 RGD:11344212
G Sod3 superoxide dismutase 3 IMP compared to SS/JrHsdMcwi;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929 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;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929
increased vascular permeability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 RGD:14995942 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 RGD:14995942
increased vasoconstriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:31125292 RGD:14696718 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Htr7em1Msu 5-hydroxytryptamine receptor 7; CRISPR/Cas9 induced mutant 1, Msu IMP RGD PMID:31125292 RGD:14696718
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 Rarres2 retinoic acid receptor responder 2 sexual_dimorphism IMP
IAGP		 compared to female knockout
compared to wild-type		 RGD PMID:29906243 PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340, RGD:38596340 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556 		JBrowse link
G Rarres2em1Msu retinoic acid receptor responder 2; CRISPR/Cas9 induced mutant 1, Msu sexual_dimorphism IMP
IAGP		 compared to female knockout
compared to wild-type		 RGD PMID:29906243 PMID:29906243 PMID:29906243 RGD:38596340, RGD:38596340, RGD:38596340
G Shc1 SHC adaptor protein 1 IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Shc1em1Mcwi SHC adaptor protein 1; ZFN induced mutant 1, Medical College of Wisconsin IMP RGD PMID:27270176 RGD:12792230
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin IMP RGD PMID:27270176 RGD:12792230
G Sod3 superoxide dismutase 3 IMP XCO:0000145;DNA:missense mutation:cds:p.E124D RGD PMID:24322611 RGD:38548929 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 XCO:0000145 RGD PMID:24322611 RGD:38548929
increased vasodilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gper1 G protein-coupled estrogen receptor 1 IMP compared to wild type SS rat RGD PMID:30354811 RGD:39939000 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889 		JBrowse link
G Gper1em1Bj G protein-coupled estrogen receptor 1; CRISPR/Cas 9 induced mutant 1, Bj IMP compared to wild type SS rat RGD PMID:30354811 RGD:39939000
G Hmox1 heme oxygenase 1 IDA RGD PMID:15057912 RGD:1580452 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 IMP compared to wild type RGD PMID:25136115 RGD:11079199 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775 		JBrowse link
G Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin IMP compared to wild type RGD PMID:25136115 RGD:11079199
G Sod3 superoxide dismutase 3 IMP compared to SS/JrHsdMcwi;DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929 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;DNA:missense mutation:CDS:p.E124D RGD PMID:24322611 RGD:38548929
pathological neovascularization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 IDA RGD PMID:16359662 RGD:1580975 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Kdr kinase insert domain receptor IDA inhibition reduces portal-systemic collateral vessel formation RGD PMID:14988842 RGD:2292014 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5422
    cardiovascular system phenotype 1371
      abnormal cardiovascular system physiology 1148
        abnormal vasculature physiology 69
          abnormal blood vessel physiology 69
            abnormal blood-brain barrier function + 6
            abnormal blood-cerebrospinal fluid barrier function 3
            abnormal blood-inner ear barrier function 0
            abnormal carotid body physiology + 0
            abnormal vascular endothelial cell physiology + 0
            abnormal vascular permeability + 8
            abnormal vascular smooth muscle physiology + 51
            abnormal vascular wound healing 3
            blood vessel inflammation + 1
            coronary artery spasm 0
            intramural bleeding in blood vessel wall 0
            pathological neovascularization + 3
paths to the root