Symbol
Name
ID

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

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Bowing of the long bones

Radial bowing

Genu valgum

Genu varum

Clinodactyly of the 5th finger

Short distal phalanx of finger

Absent epiphyses of the phalanges of the hand

Cone-shaped epiphyses of the phalanges of the hand

Short middle phalanx of finger

Camptodactyly of finger

Short finger

Short toe

Hammertoe

Clinodactyly

Brachydactyly

Irregular capital femoral epiphysis

Flared femoral metaphysis

Coxa vara

Short femoral neck

Hyperplasia of the femoral trochanters

Dumbbell-shaped femur

Short metatarsal

Metatarsus adductus

Abnormal metaphysis morphology

Absent primary metaphyseal spongiosa

Coarse metaphyseal trabecularization

Abnormal metaphyseal vascular invasion

Abnormal humeral metaphysis morphology

Flared humeral metaphysis

Dumbbell-shaped metaphyses

Metaphyseal irregularity

Irregular, rachitic-like metaphyses

Metaphyseal widening

Flared metaphysis

Carpal bone hypoplasia

Short palm

Small hand

Abnormal foot morphology

Pes cavus

Pes planus

Talipes equinovarus

Abnormal acetabulum morphology

Flat acetabular roof

Irregular acetabular roof

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

Abnormality of the radioulnar joints

Delayed ossification of carpal bones

Short tubular bones of the hand

Elbow flexion contracture

Distal upper limb muscle weakness

Micromelia

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

spondyloepiphyseal dysplasia Maroteaux type

spondylometaphyseal dysplasia Kozlowski type

Mouse Phenotypes		abnormal carpal bone morphology	fused carpal bones	abnormal phalanx morphology	abnormal metacarpal bone morphology	short limbs	short tail
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)
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