|
Symbol Name ID |
Trpv4
transient receptor potential cation channel, subfamily V, member 4 MGI:1926945 |
| Darker colors indicate more annotations |
| Human Phenotypes | Short neck |
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 acetabulum morphology |
Flat acetabular roof |
Irregular acetabular roof |
Hip contracture |
Knee flexion contracture |
Scapular winging |
Delayed ossification of carpal bones |
Short tubular bones of the hand |
Elbow flexion contracture |
Micromelia |
Flexion contracture |
Arthrogryposis multiplex congenita |
Limb joint contracture |
Small joint hypermobilty |
Joint stiffness |
Delayed skeletal maturation |
Intercostal muscle weakness |
Cone-shaped epiphysis |
Delayed epiphyseal ossification |
Epiphyseal dysplasia |
Flattened femoral epiphysis |
Caudal appendage |
Long coccyx |
Narrow greater sciatic notch |
Short greater sciatic notch |
Abnormal ilium morphology |
Flared iliac wing |
Squared iliac bones |
Hip dysplasia |
Halberd-shaped pelvis |
Down-sloping shoulders |
Clavicular pseudarthrosis |
Abnormal rib cage morphology |
Abnormal rib morphology |
Short ribs |
Cupped ribs |
Flaring of rib cage |
Long thorax |
Shield chest |
Pectus carinatum |
Thoracic kyphosis |
Narrow chest |
Abnormality of the vertebral column |
Hyperlordosis |
Lumbar hyperlordosis |
Kyphosis |
Kyphoscoliosis |
Scoliosis |
Abnormal intervertebral disk morphology |
Increased intervertebral space |
Hypoplasia of the odontoid process |
Hypoplastic cervical vertebrae |
Cervical platyspondyly |
Abnormal form of the vertebral bodies |
Anisospondyly |
Platyspondyly |
Coronal cleft vertebrae |
Vertebral wedging |
Relatively short spine |
Atlantoaxial instability |
Disproportionate short-trunk short stature |
Abnormal enchondral ossification |
Generalized osteoporosis |
Abnormal cortical bone morphology |
Premature osteoarthritis |
Enlarged joints |
Skeletal dysplasia |
Spondyloepiphyseal dysplasia |
Spondylometaphyseal dysplasia |
| 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 |
abnormal skeleton morphology |
abnormal long bone diaphysis morphology |
abnormal long bone epiphyseal plate proliferative zone |
decreased width of hypertrophic chondrocyte zone |
thickened long bone epiphysis |
decreased length of long bones |
abnormal lumbar vertebrae morphology |
abnormal epiphyseal plate morphology |
abnormal bone mineralization |
decreased bone mineralization |
failure of endochondral bone ossification |
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| Availability | Mouse Genotype | |||||||||||||||
| Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0 | ||||||||||||||||
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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last database update 04/23/2024 MGI 6.23 |
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