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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:interrupted aortic arch
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Accession:MP:0004157 term browser browse the term
Definition:complete discontinuation between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery
Synonyms:exact_synonym: IAA
 xref: Fyler:1250


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interrupted aortic arch term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atmin ATM interactor IAGP MGI PMID:19235720 PMID:25294941 NCBI chr 8:117,670,132...117,687,184
Ensembl chr 8:117,670,132...117,687,184 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 IAGP MGI PMID:12441304 NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 IEA MGI NCBI chr 3:33,864,906...33,898,473
Ensembl chr 3:33,866,511...33,898,459 		JBrowse link
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 Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:15475956 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 Dnah11 dynein, axonemal, heavy chain 11 IAGP MGI PMID:20511334 NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 IAGP MGI PMID:18037990 NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 IEA MGI NCBI chr 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		JBrowse link
G Dynll1 dynein light chain LC8-type 1 IAGP MGI PMID:25294941 NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058 		JBrowse link
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 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 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:21364285 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Flna filamin, alpha IAGP MGI PMID:17172441 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10479458 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Gata3 GATA binding protein 3 IAGP MGI PMID:18955134 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		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 H2az2 H2A.Z histone variant 2 IAGP MGI PMID:16557299 PMID:17172441 PMID:18058916 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 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:34615475 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Kif7 kinesin family member 7 IEA MGI NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		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 Ltbp1 latent transforming growth factor beta binding protein 1 IAGP MGI PMID:17804598 NCBI chr17:75,312,475...75,699,507
Ensembl chr17:75,312,563...75,699,507 		JBrowse link
G Matr3 matrin 3 IAGP MGI PMID:25574029 NCBI chr18:35,686,462...35,724,526
Ensembl chr18:35,695,191...35,726,888 		JBrowse link
G Mecom MDS1 and EVI1 complex locus IAGP MGI PMID:24586749 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Mrtfb myocardin related transcription factor B IAGP MGI PMID:15951419 NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393 		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 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IEA MGI NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Nprl3 nitrogen permease regulator-like 3 IAGP MGI PMID:22538705 NCBI chr11:32,181,963...32,217,707
Ensembl chr11:32,175,628...32,217,707 		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 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 Sema3c sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C IAGP MGI PMID:11688556 PMID:15548583 NCBI chr 5:17,779,814...17,935,266
Ensembl chr 5:17,779,279...17,935,266 		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 Sox4 SRY (sex determining region Y)-box 4 IAGP MGI PMID:18477811 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:11239417 PMID:15469978 PMID:15789410 PMID:16696966 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:11744375 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 Tmem67 transmembrane protein 67 IEA MGI NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 IAGP MGI PMID:11959836 NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
interrupted aortic arch, type b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:15070745 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		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 Chd7 chromodomain helicase DNA binding protein 7 IAGP MGI PMID:19855134 PMID:26102480 PMID:33127760 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 IEA MGI NCBI chr 5:30,486,328...30,524,039
Ensembl chr 5:30,486,386...30,524,039 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:33127760 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		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 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 Fgf8 fibroblast growth factor 8 IAGP MGI PMID:12223416 PMID:14623825 PMID:15996652 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Foxc1 forkhead box C1 IAGP MGI PMID:10479458 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 IAGP MGI PMID:9409679 PMID:10479458 PMID:26299482 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		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:33127760 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:16332365 PMID:18058916 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		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 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 Mesp1 mesoderm posterior 1 IAGP MGI PMID:26102480 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		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 Nkx2-5 NK2 homeobox 5 IAGP MGI PMID:15070745 PMID:26299482 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		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 Sema3c sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C IAGP MGI PMID:11688556 NCBI chr 5:17,779,814...17,935,266
Ensembl chr 5:17,779,279...17,935,266 		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 Smg9 SMG9 nonsense mediated mRNA decay factor IEA MGI NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203 		JBrowse link
G Ssr2 signal sequence receptor, beta IEA MGI NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		JBrowse link
G Tab1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 IEA MGI NCBI chr15:80,017,333...80,045,908
Ensembl chr15:80,017,328...80,045,908 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:12223416 PMID:22921202 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:11744375 PMID:14623825 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 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 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
interrupted aortic arch, type c term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:18058916 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		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 Sema3c sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C IAGP MGI PMID:11688556 NCBI chr 5:17,779,814...17,935,266
Ensembl chr 5:17,779,279...17,935,266 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16762
    cardiovascular system phenotype 4134
      abnormal cardiovascular system morphology 3255
        abnormal blood vessel morphology 1712
          abnormal artery morphology 642
            abnormal systemic artery morphology 375
              abnormal aorta morphology 291
                interrupted aorta 60
                  interrupted aortic arch 58
                    interrupted aortic arch, type a 0
                    interrupted aortic arch, type b 32
                    interrupted aortic arch, type c 3
Path 2
Term Annotations click to browse term
  mammalian phenotype 16762
    cardiovascular system phenotype 4134
      abnormal cardiovascular system morphology 3255
        abnormal blood vessel morphology 1712
          abnormal artery morphology 642
            abnormal systemic artery morphology 375
              abnormal aorta morphology 291
                abnormal thoracic aorta morphology 187
                  abnormal aortic arch morphology 158
                    interrupted aortic arch 58
                      interrupted aortic arch, type a 0
                      interrupted aortic arch, type b 32
                      interrupted aortic arch, type c 3
paths to the root