abnormal motile primary cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cilia of the embryo found on the cells of the embryonic node, which generate flow of extraembryonic fluid surrounding the node in a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization (Mammalian Phenotype Ontology, MP_0004131)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004131
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31 gene mutations causing the abnormal motile primary cilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATMIN ATM interactor
B9D1 B9 protein domain 1
BICC1 BicC family RNA binding protein 1
C2CD3 C2 calcium-dependent domain containing 3
CCDC40 coiled-coil domain containing 40
CLUAP1 clusterin associated protein 1
DLL1 delta-like 1 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
FOXJ1 forkhead box J1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
INTU inturned planar cell polarity protein
INVS inversin
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
MBD4 methyl-CpG binding domain protein 4
MKS1 Meckel syndrome, type 1
NOTO notochord homeobox
PIFO primary cilia formation
RFX3 regulatory factor X, 3 (influences HLA class II expression)
TBX6 T-box 6
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM67 transmembrane protein 67
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
WDR35 WD repeat domain 35
ZIC3 Zic family member 3