short vertebral column Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord (Mammalian Phenotype Ontology, MP_0004704)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004704
Similar Terms
Downloads & Tools

Genes

14 gene mutations causing the short vertebral column phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
CHUK conserved helix-loop-helix ubiquitous kinase
COL2A1 collagen, type II, alpha 1
DLL3 delta-like 3 (Drosophila)
FGFR3 fibroblast growth factor receptor 3
FKBP8 FK506 binding protein 8, 38kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
NKX3-2 NK3 homeobox 2
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
WNT5A wingless-type MMTV integration site family, member 5A