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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:facial cleft
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Accession:MP:0008797 term browser browse the term
Definition:a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face
Synonyms:exact_synonym: Tessier Cleft;   prosopoanoschisis;   split face malformation


show annotations for term's descendants           Sort by:
facial cleft term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy/beclin 1 regulator 1 IEA MGI NCBI chr 2:91,560,464...91,749,194
Ensembl chr 2:91,560,479...91,749,194 		JBrowse link
G Amt aminomethyltransferase IEA MGI NCBI chr 9:108,174,104...108,179,501
Ensembl chr 9:108,174,052...108,179,501 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IAGP MGI PMID:23892366 NCBI chr10:90,825,173...90,918,688
Ensembl chr10:90,825,173...90,918,632 		JBrowse link
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:20877562 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Cdc42 cell division cycle 42 IAGP MGI PMID:28326341 NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Cdk20 cyclin dependent kinase 20 IEA MGI NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587 		JBrowse link
G Cep135 centrosomal protein 135 IEA MGI NCBI chr 5:76,736,495...76,794,313
Ensembl chr 5:76,736,545...76,794,313 		JBrowse link
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP MGI PMID:30459452 NCBI chr 8:68,809,433...69,188,270
Ensembl chr 8:68,809,433...69,187,798 		JBrowse link
G Ctnnb1 catenin beta 1 IAGP MGI PMID:21307168 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ednra endothelin receptor type A IAGP MGI PMID:19185569 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Esrp1 epithelial splicing regulatory protein 1 IEA MGI NCBI chr 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:18832392 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:18832392 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fuz fuzzy planar cell polarity protein IEA MGI NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 IEA MGI NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 IAGP MGI PMID:20654612 PMID:20978075 PMID:21262862 PMID:21377456 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 IAGP MGI PMID:20654612 NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:37075751 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:19185569 PMID:34184034 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hesx1 homeobox gene expressed in ES cells IEA MGI NCBI chr14:26,716,322...26,724,286
Ensembl chr14:26,716,373...26,724,286 		JBrowse link
G Mllt10 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 IEA MGI NCBI chr 2:18,059,971...18,217,201
Ensembl chr 2:18,060,048...18,217,199 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria IAGP MGI PMID:32941884 NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		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 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:18385133 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Ndst3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 IAGP MGI PMID:18385133 NCBI chr 3:123,319,815...123,484,822
Ensembl chr 3:123,319,815...123,484,502 		JBrowse link
G Nuak1 NUAK family, SNF1-like kinase, 1 IAGP MGI PMID:22689267 NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461 		JBrowse link
G Nuak2 NUAK family, SNF1-like kinase, 2 IAGP MGI PMID:22689267 NCBI chr 1:132,243,827...132,261,233
Ensembl chr 1:132,243,864...132,261,226 		JBrowse link
G Nxn nucleoredoxin IEA MGI NCBI chr11:76,148,052...76,289,967
Ensembl chr11:76,148,024...76,289,966 		JBrowse link
G Pak1ip1 PAK1 interacting protein 1 IAGP MGI PMID:23935987 NCBI chr13:41,154,486...41,166,509
Ensembl chr13:41,154,499...41,166,491 		JBrowse link
G Pax6 paired box 6 IEA MGI NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pcgf3 polycomb group ring finger 3 IEA MGI NCBI chr 5:108,609,082...108,654,842
Ensembl chr 5:108,609,098...108,654,842 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N IEA MGI NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402 		JBrowse link
G Polr1a polymerase (RNA) I polypeptide A IAGP MGI PMID:37075751 NCBI chr 6:71,886,037...71,956,419
Ensembl chr 6:71,886,037...71,961,919 		JBrowse link
G Ptov1 prostate tumor over expressed gene 1 IEA MGI NCBI chr 7:44,512,491...44,523,542
Ensembl chr 7:44,512,491...44,519,212 		JBrowse link
G Rab34 RAB34, member RAS oncogene family IEA MGI NCBI chr11:78,079,253...78,083,019
Ensembl chr11:78,079,256...78,083,019 		JBrowse link
G Rdh10 retinol dehydrogenase 10 (all-trans) IAGP MGI PMID:17473173 PMID:21930923 NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958 		JBrowse link
G Shroom3 shroom family member 3 IEA MGI NCBI chr 5:92,831,294...93,113,618
Ensembl chr 5:92,831,294...93,113,177 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 IEA MGI NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Srsf3 serine and arginine-rich splicing factor 3 IAGP MGI PMID:34184034 NCBI chr17:29,251,634...29,262,346
Ensembl chr17:29,251,602...29,262,347 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IEA MGI NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:25381013 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 IEA MGI NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Trim71 tripartite motif-containing 71 IAGP MGI PMID:19098426 NCBI chr 9:114,340,336...114,393,437
Ensembl chr 9:114,336,201...114,393,437 		JBrowse link
G Tulp3 TUB like protein 3 IAGP MGI PMID:11406614 NCBI chr 6:128,298,103...128,332,833
Ensembl chr 6:128,298,124...128,332,814 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector IAGP MGI PMID:24302887 NCBI chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989 		JBrowse link
lateral facial cleft term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:20877562 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
midline facial cleft term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 IAGP MGI PMID:9847249 PMID:35127681 NCBI chr10:102,834,564...102,865,501
Ensembl chr10:102,834,568...102,866,076 		JBrowse link
G Alx3 aristaless-like homeobox 3 IAGP MGI PMID:11641221 PMID:20534379 NCBI chr 3:107,502,347...107,513,191
Ensembl chr 3:107,502,347...107,513,092 		JBrowse link
G Alx4 aristaless-like homeobox 4 IAGP MGI PMID:9847249 PMID:11641221 PMID:35127681 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IAGP MGI PMID:9216040 PMID:9753320 PMID:23892366 NCBI chr10:90,825,173...90,918,688
Ensembl chr10:90,825,173...90,918,632 		JBrowse link
G Ccn2 cellular communication network factor 2 IAGP MGI PMID:20877562 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Cdk13 cyclin dependent kinase 13 IAGP MGI PMID:31440507 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader IAGP MGI PMID:20589882 NCBI chr 6:120,643,275...120,748,152
Ensembl chr 6:120,643,330...120,748,151 		JBrowse link
G E2f1 E2F transcription factor 1 IAGP MGI PMID:25053435 PMID:25725491 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812 		JBrowse link
G Edil3 EGF-like repeats and discoidin I-like domains 3 IAGP MGI PMID:19307312 NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 IAGP MGI PMID:19307312 NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413 		JBrowse link
G Fbxo11 F-box protein 11 IAGP MGI PMID:17035249 NCBI chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IAGP MGI PMID:26341559 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Foxd3 forkhead box D3 IAGP MGI PMID:18367558 NCBI chr 4:99,544,536...99,546,908
Ensembl chr 4:99,544,536...99,546,859 		JBrowse link
G Foxg1 forkhead box G1 IAGP MGI PMID:23872235 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 IAGP MGI PMID:21515572 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Gtf2i general transcription factor II I IAGP MGI PMID:19109438 NCBI chr 5:134,266,686...134,346,571
Ensembl chr 5:134,266,688...134,343,614 		JBrowse link
G Gtf2ird1 general transcription factor II I repeat domain-containing 1 IAGP MGI PMID:19109438 NCBI chr 5:134,386,515...134,485,628
Ensembl chr 5:134,386,510...134,485,570 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:12490557 PMID:18367558 PMID:26341559 PMID:31733190 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 IAGP MGI PMID:25053435 NCBI chr11:57,719,539...57,722,973
Ensembl chr11:57,719,531...57,723,644 		JBrowse link
G Mesp1 mesoderm posterior 1 IAGP MGI PMID:23872235 NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536 		JBrowse link
G Nosip nitric oxide synthase interacting protein IAGP MGI PMID:25546391 NCBI chr 7:44,711,840...44,727,927
Ensembl chr 7:44,711,853...44,727,634 		JBrowse link
G Nubp2 nucleotide binding protein 2 IAGP MGI PMID:31733190 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		JBrowse link
G Pax3 paired box 3 IAGP MGI PMID:23872235 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfa platelet derived growth factor, alpha IAGP MGI PMID:15361870 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfc platelet-derived growth factor, C polypeptide IAGP MGI PMID:15361870 NCBI chr 3:80,943,723...81,121,347
Ensembl chr 3:80,943,723...81,121,347 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP MGI PMID:9226440 PMID:11782318 PMID:12490557 PMID:12748302 PMID:17143286 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:11782318 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Plekha1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 IAGP MGI PMID:17143286 NCBI chr 7:130,462,281...130,515,224
Ensembl chr 7:130,467,486...130,515,042 		JBrowse link
G Rara retinoic acid receptor, alpha IAGP MGI PMID:7607067 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:7607067 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rdh10 retinol dehydrogenase 10 (all-trans) 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 Shroom3 shroom family member 3 IAGP MGI PMID:10589677 NCBI chr 5:92,831,294...93,113,618
Ensembl chr 5:92,831,294...93,113,177 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) IAGP MGI PMID:9284043 PMID:11731796 NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Sp8 trans-acting transcription factor 8 IAGP MGI PMID:23872235 NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311 		JBrowse link
G Tacc3 transforming, acidic coiled-coil containing protein 3 IAGP MGI PMID:11847113 NCBI chr 5:33,814,808...33,836,331
Ensembl chr 5:33,815,472...33,836,339 		JBrowse link
G Tet1 tet methylcytosine dioxygenase 1 IAGP MGI PMID:22246904 PMID:26989192 NCBI chr10:62,640,349...62,723,242
Ensembl chr10:62,640,349...62,744,775 		JBrowse link
G Tfap2a transcription factor AP-2, alpha IAGP MGI PMID:8622765 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IAGP MGI PMID:10669096 PMID:16598713 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IAGP MGI PMID:16598713 NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
oblique facial cleft term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumo1 small ubiquitin-like modifier 1 IAGP MGI PMID:16990542 NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16883
    growth/size/body region phenotype 7003
      abnormal head morphology 1352
        abnormal facial morphology 1102
          facial cleft 77
            lateral facial cleft 1
            midline facial cleft 39
            oblique facial cleft 1
paths to the root