absent somites Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo (Mammalian Phenotype Ontology, MP_0006386)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006386
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34 gene mutations causing the absent somites phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AMN amnion associated transmembrane protein
CHRD chordin
CUBN cubilin (intrinsic factor-cobalamin receptor)
DAXX death-domain associated protein
DCTN1 dynactin 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EPB41L5 erythrocyte membrane protein band 4.1 like 5
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FN1 fibronectin 1
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12
KAT2A K(lysine) acetyltransferase 2A
LEFTY2 left-right determination factor 2
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MDM4 MDM4, p53 regulator
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
NODAL nodal growth differentiation factor
PALB2 partner and localizer of BRCA2
PDPK1 3-phosphoinositide dependent protein kinase 1
PLK4 polo-like kinase 4
POGLUT1 protein O-glucosyltransferase 1
PRKCI protein kinase C, iota
PTK2 protein tyrosine kinase 2
QKI QKI, KH domain containing, RNA binding
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RBM3 RNA binding motif (RNP1, RRM) protein 3
SCX scleraxis basic helix-loop-helix transcription factor
T T, brachyury homolog (mouse)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDGF1 teratocarcinoma-derived growth factor 1