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Symbol
Name
ID

Trpv4
transient receptor potential cation channel, subfamily V, member 4
MGI:1926945

Phenotype annotations related to growth/size/body

Darker colors indicate more annotations

Human Phenotypes	Torticollis	Short neck	Disproportionate short-trunk short stature	Short stature	Disproportionate short-limb short stature	Severe short stature	Growth delay
Disease(s) Associated with TRPV4	Torticollis	Short neck	Disproportionate short-trunk short stature	Short stature	Disproportionate short-limb short stature	Severe short stature	Growth delay
Charcot-Marie-Tooth disease axonal type 2C
metatropic dysplasia
parastremmatic dwarfism
scapuloperoneal spinal muscular atrophy
spondyloepiphyseal dysplasia Maroteaux type
spondylometaphyseal dysplasia Kozlowski type

Mouse Phenotypes		midface hypoplasia	short snout	decreased fetal size
Availability	Mouse Genotype
	Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23