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: holoprosencephaly
Accession: MP:0005157
browse the term
Definition: presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development
Synonyms: exact_synonym: HPE
narrow_synonym: Lobar holoprosencephaly
xref: Fyler:4338; HP:0001360; HP:0006870
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Acvr1b
activin A receptor, type 1B
IAGP
MGI
PMID:16564040
NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
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B9d1
B9 protein domain 1
IAGP
MGI
PMID:21763481
NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757
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Bmp4
bone morphogenetic protein 4
IAGP
MGI
PMID:14681194
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Boc
BOC cell adhesion associated, oncogene regulated
IAGP
MGI
PMID:21183473 PMID:27811357
NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260
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Cc2d2a
coiled-coil and C2 domain containing 2A
IAGP
MGI
PMID:21725307
NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314
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Cdc42
cell division cycle 42
IAGP
MGI
PMID:17050694
NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031
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Cdon
cell adhesion molecule-related/down-regulated by oncogenes
IAGP
MGI
PMID:12620190 PMID:16648472 PMID:17504941 PMID:21183473
NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948
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Cep164
centrosomal protein 164
IAGP
MGI
PMID:29244804
NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989
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Chrd
chordin
IAGP
MGI
PMID:10688202 PMID:20508035
NCBI chr16:20,551,528...20,561,132
Ensembl chr16:20,551,877...20,561,134
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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
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Col2a1
collagen, type II, alpha 1
IAGP
MGI
PMID:20730911
NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
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Cripto
cripto, EGF-CFC family member
IAGP
MGI
PMID:16291788
NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
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Crkl
v-crk avian sarcoma virus CT10 oncogene homolog-like
IAGP
MGI
PMID:23469164 PMID:25565927
NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298
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Dctn5
dynactin 5
IEA
MGI
NCBI chr 7:121,732,264...121,748,267
Ensembl chr 7:121,732,264...121,748,267
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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
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Disp1
dispatched RND transporter family member 1
IAGP
MGI
PMID:12421714 PMID:15269168
NCBI chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
IEA
MGI
NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446
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Dync2i1
dynein 2 intermediate chain 1
IAGP
MGI
PMID:37228654
NCBI chr12:116,169,881...116,226,665
Ensembl chr12:116,169,882...116,226,642
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Edil3
EGF-like repeats and discoidin I-like domains 3
IAGP
MGI
PMID:17468181 PMID:22383895 PMID:25809849
NCBI chr13:88,969,591...89,471,344
Ensembl chr13:88,969,591...89,471,342
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Eef1a1
eukaryotic translation elongation factor 1 alpha 1
IAGP
MGI
PMID:25809849
NCBI chr 9:78,385,735...78,389,006
Ensembl chr 9:78,385,731...78,396,433
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Fat1
FAT atypical cadherin 1
IAGP
MGI
PMID:12724416
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Foxg1
forkhead box G1
IAGP
MGI
PMID:17050694 PMID:17470284 PMID:18694563
NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
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Foxh1
forkhead box H1
IAGP
MGI
PMID:11358869
NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
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Foxp4
forkhead box P4
IAGP
MGI
PMID:22542185
NCBI chr17:48,178,058...48,235,401
Ensembl chr17:48,178,058...48,235,570
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Foxq1
forkhead box Q1
IAGP
MGI
PMID:16109771
NCBI chr13:31,742,153...31,744,959
Ensembl chr13:31,740,117...31,744,959
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Gas1
growth arrest specific 1
IAGP
MGI
PMID:17504940 PMID:17504941 PMID:17525797 PMID:27811357
NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179
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Gdf1
growth differentiation factor 1
IAGP
MGI
PMID:16564040
NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 Ensembl chr 8:70,768,425...70,784,242
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Hhat
hedgehog acyltransferase
IAGP
MGI
PMID:15075292
NCBI chr 1:192,195,133...192,453,546
Ensembl chr 1:192,179,019...192,453,531
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Hic1
hypermethylated in cancer 1
IAGP
MGI
PMID:10655551
NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345
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Ift172
intraflagellar transport 172
IAGP
MGI
PMID:18930042
NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460
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Katnb1
katanin p80 (WD40-containing) subunit B 1
IAGP
MGI
PMID:25521379
NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777
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Lrp2
low density lipoprotein receptor-related protein 2
IAGP
MGI
PMID:8710893 PMID:20531455 PMID:22555591
NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409
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Morc2a
microrchidia 2A
IEA
MGI
NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477
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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
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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
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Nodal
nodal growth differentiation factor
IAGP
MGI
PMID:11311163 PMID:16564040 PMID:20508035 PMID:22383895
NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
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Nog
noggin
IAGP
MGI
PMID:10688202 PMID:20508035
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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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
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Pgap1
post-GPI attachment to proteins 1
IAGP
MGI
PMID:23213481
NCBI chr 1:54,512,159...54,596,843
Ensembl chr 1:54,512,153...54,596,843
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
IAGP
MGI
PMID:23213481
NCBI chr 1:105,446,147...105,591,466
Ensembl chr 1:105,446,147...105,591,402
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Prdm15
PR domain containing 15
IAGP
MGI
PMID:31950080
NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050
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Psph
phosphoserine phosphatase
IEA
MGI
NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513
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Ptch1
patched 1
IAGP
MGI
PMID:11668681
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Rpgrip1l
Rpgrip1-like
IEA
MGI
NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890
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Shh
sonic hedgehog
IAGP
MGI
PMID:12195432 PMID:12756179 PMID:15075292 PMID:15105374 PMID:15269168 PMID:17468181 PMID:17504940 PMID:17504941 PMID:17525797 PMID:18694563 More...
NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
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Six3
sine oculis-related homeobox 3
IAGP
MGI
PMID:18694563
NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730
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Smad2
SMAD family member 2
IAGP
MGI
PMID:15183723 PMID:15630024 PMID:22383895
NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034
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Smad3
SMAD family member 3
IAGP
MGI
PMID:15183723 PMID:20508035
NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
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Smo
smoothened, frizzled class receptor
IAGP
MGI
PMID:25760946
NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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Sox4
SRY (sex determining region Y)-box 4
IAGP
MGI
PMID:16109771
NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696
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Sp8
trans-acting transcription factor 8
IAGP
MGI
PMID:17470284
NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
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Stil
Scl/Tal1 interrupting locus
IAGP
MGI
PMID:10385121 PMID:11668681
NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393
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Tctn1
tectonic family member 1
IAGP
MGI
PMID:16357211
NCBI chr 5:122,377,558...122,402,557
Ensembl chr 5:122,375,911...122,402,523
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Tctn3
tectonic family member 3
IAGP
MGI
PMID:28800946
NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677
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Tgif1
TGFB-induced factor homeobox 1
IAGP
MGI
PMID:17082251 PMID:22383895
NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541
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Tgif2
TGFB-induced factor homeobox 2
IAGP
MGI
PMID:22383895
NCBI chr 2:156,681,737...156,697,490
Ensembl chr 2:156,681,927...156,697,490
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Trappc10
trafficking protein particle complex 10
IEA
MGI
NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
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Ttbk2
tau tubulin kinase 2
IAGP
MGI
PMID:23141541 PMID:30532139
NCBI chr 2:120,563,297...120,681,111
Ensembl chr 2:120,563,297...120,681,085
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Twsg1
twisted gastrulation BMP signaling modulator 1
IAGP
MGI
PMID:14681194
NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
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Vax1
ventral anterior homeobox 1
IAGP
MGI
PMID:10601036
NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488
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Wdr11
WD repeat domain 11
IAGP
MGI
PMID:29263200
NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462
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Zic2
zinc finger protein of the cerebellum 2
IAGP
MGI
PMID:10677508 PMID:18617531
NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264
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Spry2
sprouty RTK signaling antagonist 2
IAGP
MGI
PMID:17156747
NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
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Spry4
sprouty RTK signaling antagonist 4
IAGP
MGI
PMID:17156747
NCBI chr18:38,719,300...38,734,400
Ensembl chr18:38,719,300...38,734,468
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Twsg1
twisted gastrulation BMP signaling modulator 1
IAGP
MGI
PMID:15013800
NCBI chr17:66,230,060...66,258,198
Ensembl chr17:66,228,967...66,258,221
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Zic2
zinc finger protein of the cerebellum 2
IAGP
MGI
PMID:29992973
NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264
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Otx2
orthodenticle homeobox 2
IAGP
MGI
PMID:7590242
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Boc
BOC cell adhesion associated, oncogene regulated
IAGP
MGI
PMID:21183473
NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260
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Cdon
cell adhesion molecule-related/down-regulated by oncogenes
IAGP
MGI
PMID:21183473
NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948
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Vax1
ventral anterior homeobox 1
IAGP
MGI
PMID:28771384
NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488
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Mks1
MKS transition zone complex subunit 1
IAGP
MGI
PMID:23454480
NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629
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Tmem67
transmembrane protein 67
IAGP
MGI
PMID:23283079
NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020
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