Symbol
Name
ID

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

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Facial palsy

Torticollis

Camptodactyly of finger

Hip contracture

Knee flexion contracture

Peroneal muscle atrophy

Proximal lower limb amyotrophy

Distal lower limb muscle weakness

Peroneal muscle weakness

Hand muscle atrophy

Proximal upper limb amyotrophy

Scapular muscle atrophy

Scapular winging

Proximal muscle weakness in upper limbs

Distal upper limb amyotrophy

Foot dorsiflexor weakness

Shoulder girdle muscle atrophy

Elbow flexion contracture

Distal upper limb muscle weakness

Flexion contracture

Arthrogryposis multiplex congenita

Limb joint contracture

Difficulty walking

Diaphragmatic weakness

Distal muscle weakness

Progressive distal muscle weakness

Intercostal muscle weakness

Gowers sign

Muscle fiber splitting

Amyoplasia

Distal amyotrophy

Distal lower limb amyotrophy

Progressive distal muscular atrophy

Nonprogressive muscular atrophy

Scapuloperoneal amyotrophy

Spinal muscular atrophy

Disease(s) Associated with TRPV4

autosomal dominant distal hereditary motor neuronopathy 8

Charcot-Marie-Tooth disease axonal type 2C

metatropic dysplasia

parastremmatic dwarfism

scapuloperoneal spinal muscular atrophy

spondylometaphyseal dysplasia Kozlowski type

Mouse Phenotypes		abnormal vasodilation
Availability	Mouse Genotype	abnormal vasodilation
	Trpv4^tm1Rck/Trpv4^tm1Rck

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)
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