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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 vasculature physiology
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Accession:MP:0031170 term browser browse the term
Definition:any functional anomaly of any blood and/or lymphatic vessel
Synonyms:exact_synonym: abnormal vessel physiology
 related_synonym: abnormal vascular physiology


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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 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		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 1:252,613,875...252,672,459
Ensembl chr 1:252,614,017...252,673,471 		JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12663088 RGD:704425 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		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 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		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 chr14:81,713,070...81,742,510
Ensembl chr14:81,731,188...81,742,609 		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 7:65,471,254...65,474,110
Ensembl chr 7:65,452,965...65,474,998 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IMP RGD PMID:26637559 RGD:11344212 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		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 chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		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 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		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 chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		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 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504 		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 1:262,543,774...262,557,201
Ensembl chr 1:262,543,738...262,562,417 		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 chr18:62,689,798...62,691,685 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 chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		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 6:31,483,129...31,519,061
Ensembl chr 6:31,483,140...31,519,061 		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 4:60,618,334...60,618,414 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 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		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 chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		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 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		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 1:243,049,064...243,173,636
Ensembl chr 1:243,049,081...243,173,230 		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 chr18:62,689,798...62,691,685 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 4:78,853,450...78,856,652
Ensembl chr 4:78,853,453...78,856,457 		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 2:177,135,649...177,147,257
Ensembl chr 2:177,135,659...177,147,914 		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 chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		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 chr12:20,331,073...20,336,527
Ensembl chr12:20,327,679...20,337,144 		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 chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 IMP compared to wild type RGD PMID:25136115 RGD:11079199 NCBI chr 1:179,798,856...179,982,155
Ensembl chr 1:179,799,040...179,982,281 		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 chr14:62,822,865...62,828,602
Ensembl chr14:62,811,177...62,829,125 		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 5:158,888,629...158,917,100
Ensembl chr 5:158,888,629...158,917,234 		JBrowse link
G Kdr kinase insert domain receptor IDA inhibition reduces portal-systemic collateral vessel formation RGD PMID:14988842 RGD:2292014 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 5432
    cardiovascular system phenotype 1374
      abnormal cardiovascular system physiology 1152
        abnormal vasculature physiology 69
          abnormal blood vessel physiology + 69
          vascular inflammation + 1
paths to the root