complete embryonic lethality Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) (Mammalian Phenotype Ontology, MP_0011092)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011092
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Genes

294 gene mutations causing the complete embryonic lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10
ABI1 abl-interactor 1
ACTL6A actin-like 6A
ACVR1B activin A receptor, type IB
AEBP2 AE binding protein 2
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
APC adenomatous polyposis coli
APLP2 amyloid beta (A4) precursor-like protein 2
ARF4 ADP-ribosylation factor 4
ARID3B AT rich interactive domain 3B (BRIGHT-like)
ARID4B AT rich interactive domain 4B (RBP1-like)
ARNT aryl hydrocarbon receptor nuclear translocator
ARRDC3 arrestin domain containing 3
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASF1A anti-silencing function 1A histone chaperone
ASIP agouti signaling protein
ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)
ATM ATM serine/threonine kinase
AURKA aurora kinase A
AXIN1 axin 1
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CAPNS1 calpain, small subunit 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCNB1 cyclin B1
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDK1 cyclin-dependent kinase 1
CDK7 cyclin-dependent kinase 7
CDX2 caudal type homeobox 2
CENPC centromere protein C
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHORDC1 cysteine and histidine-rich domain (CHORD) containing 1
CKAP5 cytoskeleton associated protein 5
CLP1 cleavage and polyadenylation factor I subunit 1
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT1B carnitine palmitoyltransferase 1B (muscle)
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSNK1A1 casein kinase 1, alpha 1
CSRP2BP CSRP2 binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DCTN1 dynactin 1
DERL1 derlin 1
DISP1 dispatched homolog 1 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPH1 diphthamide biosynthesis 1
DROSHA drosha, ribonuclease type III
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
E2F3 E2F transcription factor 3
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
EIF3M eukaryotic translation initiation factor 3, subunit M
ELF5 E74-like factor 5 (ets domain transcription factor)
EPOR erythropoietin receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERC1 ELKS/RAB6-interacting/CAST family member 1
ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
ETV5 ets variant 5
EXTL3 exostosin-like glycosyltransferase 3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FADD Fas (TNFRSF6)-associated via death domain
FAF1 Fas (TNFRSF6) associated factor 1
FAM20B family with sequence similarity 20, member B
FBN1 fibrillin 1
FBXL5 F-box and leucine-rich repeat protein 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FECH ferrochelatase
FGFR1 fibroblast growth factor receptor 1
FKTN fukutin
FLCN folliculin
FN1 fibronectin 1
FOXA2 forkhead box A2
FOXD3 forkhead box D3
FOXO1 forkhead box O1
FTH1 ferritin, heavy polypeptide 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GAK cyclin G associated kinase
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GCLC glutamate-cysteine ligase, catalytic subunit
GCM1 glial cells missing homolog 1 (Drosophila)
GDF3 growth differentiation factor 3
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2
GLUL glutamate-ammonia ligase
GNL3 guanine nucleotide binding protein-like 3 (nucleolar)
GPI glucose-6-phosphate isomerase
GPX4 glutathione peroxidase 4
GSS glutathione synthetase
GTF2I general transcription factor IIi
HAND1 heart and neural crest derivatives expressed 1
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC1 histone deacetylase 1
HDAC3 histone deacetylase 3
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HNF4A hepatocyte nuclear factor 4, alpha
HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
HTT huntingtin
IFT140 intraflagellar transport 140
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2
INCENP inner centromere protein antigens 135/155kDa
ISL1 ISL LIM homeobox 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAK2 Janus kinase 2
KAT2A K(lysine) acetyltransferase 2A
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KDR kinase insert domain receptor
KIF16B kinesin family member 16B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF5 Kruppel-like factor 5 (intestinal)
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
LDB1 LIM domain binding 1
LRP1B low density lipoprotein receptor-related protein 1B
MAP2K4 mitogen-activated protein kinase kinase 4
MAP2K7 mitogen-activated protein kinase kinase 7
MASTL microtubule associated serine/threonine kinase-like
MCM3AP minichromosome maintenance complex component 3 associated protein
MCM4 minichromosome maintenance complex component 4
MCM9 minichromosome maintenance complex component 9
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED1 mediator complex subunit 1
MED12 mediator complex subunit 12
MEN1 multiple endocrine neoplasia I
MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
MTERF4 mitochondrial transcription termination factor 4
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYBBP1A MYB binding protein (P160) 1a
N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative)
NAMPT nicotinamide phosphoribosyltransferase
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NF2 neurofibromin 2 (merlin)
NFYA nuclear transcription factor Y, alpha
NOC3L nucleolar complex associated 3 homolog (S. cerevisiae)
NOTCH1 notch 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRP1 neuropilin 1
NSRP1 nuclear speckle splicing regulatory protein 1
NUP155 nucleoporin 155kDa
OPA1 optic atrophy 1 (autosomal dominant)
OXSR1 oxidative stress responsive 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX6 paired box 6
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PCYT2 phosphate cytidylyltransferase 2, ethanolamine
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PHB prohibitin
PHB2 prohibitin 2
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4
PITX2 paired-like homeodomain 2
PKNOX1 PBX/knotted 1 homeobox 1
PLCG1 phospholipase C, gamma 1
PLK4 polo-like kinase 4
PMM2 phosphomannomutase 2
PNO1 partner of NOB1 homolog (S. cerevisiae)
POFUT2 protein O-fucosyltransferase 2
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PRKCI protein kinase C, iota
PRMT5 protein arginine methyltransferase 5
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PSEN1 presenilin 1
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD51C RAD51 paralog C
RAD9B RAD9 homolog B (S. pombe)
RAP1A RAP1A, member of RAS oncogene family
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RGPD1 RANBP2-like and GRIP domain containing 1
RIF1 replication timing regulatory factor 1
RMI1 RecQ mediated genome instability 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF31 ring finger protein 31
RPL24 ribosomal protein L24
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RPTOR regulatory associated protein of MTOR, complex 1
RTN4 reticulon 4
RYR2 ryanodine receptor 2 (cardiac)
S100A8 S100 calcium binding protein A8
SBDS Shwachman-Bodian-Diamond syndrome
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC63 SEC63 homolog (S. cerevisiae)
SETD8 SET domain containing (lysine methyltransferase) 8
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD2 SMAD family member 2
SMC3 structural maintenance of chromosomes 3
SMN1 survival of motor neuron 1, telomeric
SNAI1 snail family zinc finger 1
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SQLE squalene epoxidase
SRF serum response factor (c-fos serum response element-binding transcription factor)
SS18 synovial sarcoma translocation, chromosome 18
SSB Sjogren syndrome antigen B (autoantigen La)
STK11 serine/threonine kinase 11
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYF2 SYF2 pre-mRNA-splicing factor
T T, brachyury homolog (mouse)
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa
TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
TARDBP TAR DNA binding protein
TBX3 T-box 3
TDGF1 teratocarcinoma-derived growth factor 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TEAD4 TEA domain family member 4
TERF2 telomeric repeat binding factor 2
TERF2IP telomeric repeat binding factor 2, interacting protein
TET1 tet methylcytosine dioxygenase 1
TFRC transferrin receptor
TGFBR1 transforming growth factor, beta receptor 1
THBD thrombomodulin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLE3 transducin-like enhancer of split 3
TLN1 talin 1
TP53BP2 tumor protein p53 binding protein 2
TPM1 tropomyosin 1 (alpha)
TPT1 tumor protein, translationally-controlled 1
TPX2 TPX2, microtubule-associated
TRA2B transformer 2 beta homolog (Drosophila)
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRIM28 tripartite motif containing 28
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRRAP transformation/transcription domain-associated protein
TTN titin
TWIST1 twist family bHLH transcription factor 1
TYR tyrosinase
UBA6 ubiquitin-like modifier activating enzyme 6
UPF2 UPF2 regulator of nonsense transcripts homolog (yeast)
USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae)
USO1 USO1 vesicle transport factor
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
USP8 ubiquitin specific peptidase 8
VPRBP Vpr (HIV-1) binding protein
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WASH1 WAS protein family homolog 1
WDR55 WD repeat domain 55
WDR77 WD repeat domain 77
WNT7B wingless-type MMTV integration site family, member 7B
WT1 Wilms tumor 1
WTAP Wilms tumor 1 associated protein
YBX1 Y box binding protein 1
YY1 YY1 transcription factor
ZFAT zinc finger and AT hook domain containing
ZIC3 Zic family member 3
ZNF335 zinc finger protein 335
ZPR1 ZPR1 zinc finger