abnormal embryonic epiblast morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion (Mammalian Phenotype Ontology, MP_0003886)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003886
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Genes

54 gene mutations causing the abnormal embryonic epiblast morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ACVR1B activin A receptor, type IB
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ATAD3A ATPase family, AAA domain containing 3A
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BPTF bromodomain PHD finger transcription factor
CDC42 cell division cycle 42
COPS3 COP9 signalosome subunit 3
CRB2 crumbs family member 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXXC1 CXXC finger protein 1
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DIDO1 death inducer-obliterator 1
ECSIT ECSIT signalling integrator
FERMT2 fermitin family member 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FKTN fukutin
FOXD3 forkhead box D3
GATA6 GATA binding protein 6
GTF2I general transcription factor IIi
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF1B HNF1 homeobox B
HTT huntingtin
ILK integrin-linked kinase
KIF16B kinesin family member 16B
LIN9 lin-9 DREAM MuvB core complex component
MESDC2 mesoderm development candidate 2
NANOG Nanog homeobox
NBN nibrin
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
POFUT2 protein O-fucosyltransferase 2
PRICKLE1 prickle homolog 1 (Drosophila)
PRKCI protein kinase C, iota
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD51 RAD51 recombinase
RANGAP1 Ran GTPase activating protein 1
RNF2 ring finger protein 2
RYBP RING1 and YY1 binding protein
SALL4 spalt-like transcription factor 4
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SMAD1 SMAD family member 1
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SOX2 SRY (sex determining region Y)-box 2
T T, brachyury homolog (mouse)
TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
TPT1 tumor protein, translationally-controlled 1
TXNRD1 thioredoxin reductase 1
UBA3 ubiquitin-like modifier activating enzyme 3
WNT3 wingless-type MMTV integration site family, member 3
ZIC3 Zic family member 3