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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 subclavian artery morphology
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Accession:MP:0003395 term browser browse the term
Definition:any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body
Synonyms:xref: HP:0031251


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abnormal subclavian artery morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:19855134 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Eln elastin IAGP MGI PMID:9607766 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP MGI PMID:14623825 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit IAGP MGI PMID:17293478 NCBI chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		JBrowse link
G Ripply3 ripply transcriptional repressor 3 IAGP MGI PMID:21177346 NCBI chr16:94,129,281...94,137,794
Ensembl chr16:94,129,279...94,137,794 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:19855134 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:14623825 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
aberrant origin of the right subclavian artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 IAGP MGI PMID:12563036 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:11694877 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like IAGP MGI PMID:11242111 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		JBrowse link
G Ece1 endothelin converting enzyme 1 IAGP MGI PMID:9649553 NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540 		JBrowse link
G Ednra endothelin receptor type A IAGP MGI PMID:9649553 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Fbln1 fibulin 1 IAGP MGI PMID:18538758 NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736 		JBrowse link
G Fgf10 fibroblast growth factor 10 IAGP MGI PMID:20035084 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgf15 fibroblast growth factor 15 IAGP MGI PMID:15789410 NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690 		JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP MGI PMID:20035084 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19008477 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IAGP MGI PMID:19008477 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain IAGP MGI PMID:34615475 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Mesp1 mesoderm posterior 1 IAGP MGI PMID:20035084 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		JBrowse link
G Msx1 msh homeobox 1 IAGP MGI PMID:34615475 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Pax9 paired box 9 IAGP MGI PMID:34615475 NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607 		JBrowse link
G Plxnd1 plexin D1 IAGP MGI PMID:15239958 NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:11239417 PMID:15469978 PMID:15789410 PMID:19855134 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:19855134 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IAGP MGI PMID:11390347 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:18296642 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
abnormal left subclavian artery morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 IAGP MGI PMID:12563036 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		JBrowse link
G Amn amnionless IEA MGI NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860 		JBrowse link
G Ermp1 endoplasmic reticulum metallopeptidase 1 IEA MGI NCBI chr19:29,587,276...29,625,815
Ensembl chr19:29,585,614...29,625,815 		JBrowse link
G Mgrn1 mahogunin, ring finger 1 IAGP MGI PMID:17075880 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide IEA MGI NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Plxnd1 plexin D1 IAGP MGI PMID:15239958 NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966 		JBrowse link
G Prdm1 PR domain containing 1, with ZNF domain IEA MGI NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497 		JBrowse link
G Qsox1 quiescin Q6 sulfhydryl oxidase 1 IEA MGI NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635 		JBrowse link
G Rere arginine glutamic acid dipeptide (RE) repeats IAGP MGI PMID:23451234 NCBI chr 4:150,365,372...150,706,423
Ensembl chr 4:150,366,103...150,706,423 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:11440971 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
abnormal right subclavian artery morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfc1 cryptic, EGF-CFC family member 1 IEA MGI NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 IEA MGI NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Foxh1 forkhead box H1 IEA MGI NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G Lama5 laminin, alpha 5 IEA MGI NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652 		JBrowse link
G Rere arginine glutamic acid dipeptide (RE) repeats IAGP MGI PMID:23451234 NCBI chr 4:150,365,372...150,706,423
Ensembl chr 4:150,366,103...150,706,423 		JBrowse link
G Setd5 SET domain containing 5 IAGP MGI PMID:34050709 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:34050709 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tmem163 transmembrane protein 163 IAGP MGI PMID:34050709 NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285 		JBrowse link
abnormal subclavian artery origin term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 protein domain 2 IEA MGI NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		JBrowse link
G Rpgrip1l Rpgrip1-like IEA MGI NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
absent right subclavian artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 IAGP MGI PMID:9449665 NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540 		JBrowse link
G Edn1 endothelin 1 IAGP MGI PMID:7615798 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Ednra endothelin receptor type A IAGP MGI PMID:9449664 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
isolation of the left subclavian artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah11 dynein, axonemal, heavy chain 11 IEA MGI NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
retroesophageal left subclavian artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene IEA MGI NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Dhx35 DEAH-box helicase 35 IEA MGI NCBI chr 2:158,636,674...158,700,141
Ensembl chr 2:158,636,727...158,700,134 		JBrowse link
G Morc2a microrchidia 2A IEA MGI NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		JBrowse link
G Polb polymerase (DNA directed), beta IEA MGI NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451 		JBrowse link
G Rpgrip1l Rpgrip1-like IEA MGI NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Tulp4 TUB like protein 4 IAGP MGI PMID:38115643 NCBI chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403 		JBrowse link
retroesophageal right subclavian artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene IEA MGI NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Acvr1 activin A receptor, type 1 IAGP MGI PMID:15226263 NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169 		JBrowse link
G Brd2 bromodomain containing 2 IEA MGI NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608 		JBrowse link
G Chrd chordin IAGP MGI PMID:12810603 NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134 		JBrowse link
G Chtop chromatin target of PRMT1 IEA MGI NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Cmip c-Maf inducing protein IEA MGI NCBI chr 8:117,983,758...118,188,245
Ensembl chr 8:117,983,803...118,186,169 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 IEA MGI NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 IAGP MGI PMID:21364285 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Fbln1 fibulin 1 IAGP MGI PMID:18538758 NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736 		JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP MGI PMID:14623825 PMID:15996652 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:16452092 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Gata6 GATA binding protein 6 IAGP MGI PMID:16557299 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 IAGP MGI PMID:15996652 NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:20570943 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336 		JBrowse link
G H13 histocompatibility 13 IEA MGI NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:15226263 PMID:16332365 PMID:16557299 PMID:17499702 PMID:18058916 More... NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IAGP MGI PMID:19008477 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668 		JBrowse link
G Hoxa1 homeobox A1 IAGP MGI PMID:21940751 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 IAGP MGI PMID:18058916 NCBI chr  X:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain IAGP MGI PMID:23437302 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Itga5 integrin alpha 5 (fibronectin receptor alpha) IAGP MGI PMID:20570943 NCBI chr15:103,252,713...103,275,218
Ensembl chr15:103,252,713...103,275,190 		JBrowse link
G Itgav integrin alpha V IAGP MGI PMID:20570943 NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:21068062 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Jun jun proto-oncogene IAGP MGI PMID:23437302 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A IAGP MGI PMID:22921202 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Myo9a myosin IXa IEA MGI NCBI chr 9:59,658,128...59,836,149
Ensembl chr 9:59,658,179...59,836,149 		JBrowse link
G Nsun2 NOL1/NOP2/Sun domain family member 2 IEA MGI NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899 		JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:2619088 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP MGI PMID:17499702 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide IAGP MGI PMID:17499702 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Prmt7 protein arginine N-methyltransferase 7 IEA MGI NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426 		JBrowse link
G Prrx1 paired related homeobox 1 IAGP MGI PMID:10664157 NCBI chr 1:163,072,688...163,142,714
Ensembl chr 1:163,072,688...163,141,279 		JBrowse link
G Prrx2 paired related homeobox 2 IAGP MGI PMID:10664157 NCBI chr 2:30,735,076...30,771,263
Ensembl chr 2:30,724,984...30,771,263 		JBrowse link
G Rala v-ral simian leukemia viral oncogene A (ras related) IEA MGI NCBI chr13:18,055,160...18,118,802
Ensembl chr13:18,055,156...18,118,824 		JBrowse link
G Sec24b SEC24 homolog B, COPII coat complex component IAGP MGI PMID:20215345 NCBI chr 3:129,776,408...129,855,248
Ensembl chr 3:129,776,408...129,855,202 		JBrowse link
G Six1 sine oculis-related homeobox 1 IAGP MGI PMID:21364285 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:11239417 PMID:11971873 PMID:16452092 PMID:16696966 PMID:22921202 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tcf7l2 transcription factor 7 like 2, T cell specific, HMG box IEA MGI NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:11744375 PMID:14623825 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II IAGP MGI PMID:16332365 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Vangl1 VANGL planar cell polarity 1 IAGP MGI PMID:18296642 NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G Vangl2 VANGL planar cell polarity 2 IAGP MGI PMID:18296642 NCBI chr 1:171,828,527...171,856,532
Ensembl chr 1:171,828,527...171,856,011 		JBrowse link
G Vegfa vascular endothelial growth factor A IAGP MGI PMID:12539040 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17108
    cardiovascular system phenotype 4128
      abnormal cardiovascular system morphology 3217
        abnormal blood vessel morphology 1788
          abnormal artery morphology 651
            abnormal systemic artery morphology 382
              abnormal subclavian artery morphology 79
                abnormal left subclavian artery morphology + 18
                abnormal right subclavian artery morphology + 64
                abnormal subclavian artery origin 4
paths to the root