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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 third pharyngeal arch morphology
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Accession:MP:0006339 term browser browse the term
Definition:any structural anomaly of the third arch which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus
Synonyms:exact_synonym: abnormal third branchial arch morphology


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abnormal third pharyngeal arch morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 3110069K09Rik RIKEN cDNA 3110069K09 gene IAGP MGI PMID:21305688 PMID:22319578 NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958 		JBrowse link
G Ccm2 cerebral cavernous malformation 2 IAGP MGI PMID:19151728 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Gcm2 glial cells missing homolog 2 (Drosophila) IAGP MGI PMID:17382312 NCBI chr13:41,254,903...41,264,511
Ensembl chr13:41,254,903...41,264,511 		JBrowse link
G Prdm1 PR domain containing 1, with ZNF domain IAGP MGI PMID:15750184 NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497 		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:11242110 PMID:16914493 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
abnormal third pharyngeal arch artery morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 Arid1a AT-rich interaction domain 1A IAGP MGI PMID:26806701 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Ccm2 cerebral cavernous malformation 2 IAGP MGI PMID:19151728 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		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 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 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 Foxc2 forkhead box C2 IAGP MGI PMID:9409679 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:15226263 PMID:26806701 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		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 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 Nrp1 neuropilin 1 IAGP MGI PMID:10518505 NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844 		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 Tbx1 T-box 1 IAGP MGI PMID:11242049 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		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
absent third pharyngeal arch term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 3110069K09Rik RIKEN cDNA 3110069K09 gene IAGP MGI PMID:22319578 NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase family 1, subfamily A2 IAGP MGI PMID:11959834 PMID:12563036 PMID:21305688 NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit IAGP MGI PMID:14659802 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Kdr kinase insert domain protein receptor IAGP MGI PMID:21305688 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Med12 mediator complex subunit 12 IAGP MGI PMID:20630950 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Mesp1 mesoderm posterior 1 IAGP MGI PMID:16914493 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		JBrowse link
G Prdm1 PR domain containing 1, with ZNF domain IAGP MGI PMID:15750184 NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497 		JBrowse link
G Ptch1 patched 1 IAGP MGI PMID:21305688 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Smad1 SMAD family member 1 IAGP MGI PMID:16765933 NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147 		JBrowse link
G Smad5 SMAD family member 5 IAGP MGI PMID:16765933 NCBI chr13:56,850,804...56,890,191
Ensembl chr13:56,850,823...56,890,190 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:11242049 PMID:15652707 PMID:16914493 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
absent third pharyngeal arch artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 3110069K09Rik RIKEN cDNA 3110069K09 gene IAGP MGI PMID:21305688 NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958 		JBrowse link
G Mesp1 mesoderm posterior 1 IAGP MGI PMID:16914493 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		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 Rxra retinoid X receptor alpha IAGP MGI PMID:19255444 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Rxrb retinoid X receptor beta IAGP MGI PMID:19255444 NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373 		JBrowse link
G Tbx1 T-box 1 IAGP MGI PMID:11242049 PMID:16914493 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
dilated third pharyngeal arch artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrtfb myocardin related transcription factor B IAGP MGI PMID:22899851 NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393 		JBrowse link
enlarged third pharyngeal arch artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Foxc1 forkhead box C1 IAGP MGI PMID:11562355 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:11562355 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Hoxa3 homeobox A3 IAGP MGI PMID:14623825 NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316 		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
third pharyngeal arch artery hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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
third pharyngeal arch hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 Rxra retinoid X receptor alpha IAGP MGI PMID:19255444 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Rxrb retinoid X receptor beta IAGP MGI PMID:19255444 NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16954
    craniofacial phenotype 1639
      abnormal craniofacial morphology 1639
        abnormal craniofacial development 529
          abnormal pharyngeal arch morphology 217
            abnormal third pharyngeal arch morphology 32
              abnormal third pharyngeal arch artery morphology + 24
              absent third pharyngeal arch 11
              small third pharyngeal arch + 5
paths to the root