absent atrioventricular cushions Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal (Mammalian Phenotype Ontology, MP_0000298)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000298
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14 gene mutations causing the absent atrioventricular cushions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BMP10 bone morphogenetic protein 10
GJC1 gap junction protein, gamma 1, 45kDa
HAS2 hyaluronan synthase 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
MAP2K5 mitogen-activated protein kinase kinase 5
NKX2-5 NK2 homeobox 5
PTPRJ protein tyrosine phosphatase, receptor type, J
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
TBX5 T-box 5
TNNT2 troponin T type 2 (cardiac)
VCAN versican
VCL vinculin