abnormal blastocyst morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo (Mammalian Phenotype Ontology, MP_0004957)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004957
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Genes

182 gene mutations causing the abnormal blastocyst morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ACTR3 ARP3 actin-related protein 3 homolog (yeast)
AHCTF1 AT hook containing transcription factor 1
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ARNT aryl hydrocarbon receptor nuclear translocator
ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa
ATAD3A ATPase family, AAA domain containing 3A
ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
AURKA aurora kinase A
AURKB aurora kinase B
BARD1 BRCA1 associated RING domain 1
BIRC5 baculoviral IAP repeat containing 5
BMP5 bone morphogenetic protein 5
BPTF bromodomain PHD finger transcription factor
BRCA1 breast cancer 1, early onset
BRD4 bromodomain containing 4
BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C3 complement component 3
CDC25A cell division cycle 25A
CDC7 cell division cycle 7
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK1 cyclin-dependent kinase 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDX2 caudal type homeobox 2
CENPA centromere protein A
CHD8 chromodomain helicase DNA binding protein 8
CHM choroideremia (Rab escort protein 1)
CNOT3 CCR4-NOT transcription complex, subunit 3
COPS2 COP9 signalosome subunit 2
COPS3 COP9 signalosome subunit 3
COPS5 COP9 signalosome subunit 5
CR1L complement component (3b/4b) receptor 1-like
CSNK2B casein kinase 2, beta polypeptide
CTCF CCCTC-binding factor (zinc finger protein)
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL3 cullin 3
CUL7 cullin 7
CXXC1 CXXC finger protein 1
DAD1 defender against cell death 1
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9
DMBT1 deleted in malignant brain tumors 1
DNM1L dynamin 1-like
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
ECT2 epithelial cell transforming 2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EHMT2 euchromatic histone-lysine N-methyltransferase 2
ELAVL1 ELAV like RNA binding protein 1
ELF5 E74-like factor 5 (ets domain transcription factor)
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EOMES eomesodermin
EPCAM epithelial cell adhesion molecule
ERF Ets2 repressor factor
ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
ESRRB estrogen-related receptor beta
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
EVX1 even-skipped homeobox 1
FBXL5 F-box and leucine-rich repeat protein 5
FBXO5 F-box protein 5
FEN1 flap structure-specific endonuclease 1
FGFR2 fibroblast growth factor receptor 2
FRS2 fibroblast growth factor receptor substrate 2
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
GAB1 GRB2-associated binding protein 1
GMNN geminin, DNA replication inhibitor
GNL3 guanine nucleotide binding protein-like 3 (nucleolar)
GNPNAT1 glucosamine-phosphate N-acetyltransferase 1
H2AFZ H2A histone family, member Z
HAND1 heart and neural crest derivatives expressed 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HNF1B HNF1 homeobox B
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IL11RA interleukin 11 receptor, alpha
INCENP inner centromere protein antigens 135/155kDa
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB7 integrin, beta 7
KDM6A lysine (K)-specific demethylase 6A
KLF5 Kruppel-like factor 5 (intestinal)
KRT8 keratin 8, type II
LAMA1 laminin, alpha 1
LAMB1 laminin, beta 1
LIN9 lin-9 DREAM MuvB core complex component
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAP2K1 mitogen-activated protein kinase kinase 1
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MBTPS1 membrane-bound transcription factor peptidase, site 1
MCM10 minichromosome maintenance complex component 10
MDFI MyoD family inhibitor
MED1 mediator complex subunit 1
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MIS18A MIS18 kinetochore protein A
MNAT1 MNAT CDK-activating kinase assembly factor 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYBBP1A MYB binding protein (P160) 1a
MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2
N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative)
NANOG Nanog homeobox
NBN nibrin
NCOA6 nuclear receptor coactivator 6
NDEL1 nudE neurodevelopment protein 1-like 1
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NELFB negative elongation factor complex member B
NF2 neurofibromin 2 (merlin)
NOC3L nucleolar complex associated 3 homolog (S. cerevisiae)
NODAL nodal growth differentiation factor
NUP214 nucleoporin 214kDa
NUSAP1 nucleolar and spindle associated protein 1
PBRM1 polybromo 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDCD2 programmed cell death 2
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLAC1 placenta-specific 1
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLR1B polymerase (RNA) I polypeptide B, 128kDa
POMT2 protein-O-mannosyltransferase 2
POT1 protection of telomeres 1
POU2F1 POU class 2 homeobox 1
POU5F1 POU class 5 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPP1R8 protein phosphatase 1, regulatory subunit 8
PPP4C protein phosphatase 4, catalytic subunit
PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1
PRDM1 PR domain containing 1, with ZNF domain
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RACGAP1 Rac GTPase activating protein 1
RAE1 ribonucleic acid export 1
RANGAP1 Ran GTPase activating protein 1
RECQL4 RecQ protein-like 4
RPL38 ribosomal protein L38
RPTOR regulatory associated protein of MTOR, complex 1
RTEL1 regulator of telomere elongation helicase 1
RYBP RING1 and YY1 binding protein
SALL4 spalt-like transcription factor 4
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SNAP23 synaptosomal-associated protein, 23kDa
SNX13 sorting nexin 13
SOCS3 suppressor of cytokine signaling 3
SOX2 SRY (sex determining region Y)-box 2
SPINT1 serine peptidase inhibitor, Kunitz type 1
SRSF3 serine/arginine-rich splicing factor 3
SSB Sjogren syndrome antigen B (autoantigen La)
SSRP1 structure specific recognition protein 1
T T, brachyury homolog (mouse)
TADA3 transcriptional adaptor 3
TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa
TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa
TEAD4 TEA domain family member 4
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
TFDP1 transcription factor Dp-1
TGS1 trimethylguanosine synthase 1
THBD thrombomodulin
THOC1 THO complex 1
TPT1 tumor protein, translationally-controlled 1
TRRAP transformation/transcription domain-associated protein
TSIX TSIX transcript, XIST antisense RNA
TTPA tocopherol (alpha) transfer protein
TXNRD1 thioredoxin reductase 1
UBA3 ubiquitin-like modifier activating enzyme 3
UBE2I ubiquitin-conjugating enzyme E2I
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDR36 WD repeat domain 36
ZNF24 zinc finger protein 24
ZNF830 zinc finger protein 830
ZPR1 ZPR1 zinc finger