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Symbol
Name
ID
Trpv4
transient receptor potential cation channel, subfamily V, member 4
MGI:1926945
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Elevated circulating creatine kinase concentration
Mucopolysacchariduria
Disease(s) Associated with TRPV4
autosomal dominant distal hereditary motor neuronopathy 8
spondyloepiphyseal dysplasia Maroteaux type

Mouse Phenotypes
homeostasis/metabolism phenotype
decreased blood osmolality
increased blood osmolality
decreased circulating antidiuretic hormone level
abnormal fluid regulation
abnormal response to injury
decreased susceptibility to injury
Availability Mouse Genotype
Trpv4tm1d(KOMP)Wtsi/Trpv4tm1d(KOMP)Wtsi
Trpv4tm1Rck/Trpv4tm1Rck *
Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
Trpv4tm1c(KOMP)Wtsi/Trpv4tm1c(KOMP)Wtsi
Tg(GFAP-cre)25Mes/0  (conditional)

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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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory