slc12a5 Phenotypes

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Phenotypes

Gene Literature (31)

Nucleotides (149)

Interactants (75)

XB-GENEPAGE-483435

Gene Symbol: slc12a5 Gene Name: solute carrier family 12 member 5

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (14 sources): Abnormal pyramidal sign, Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Delayed CNS myelination, Developmental regression, Excessive salivation, Focal hemiclonic seizure, Focal-onset seizure, Global developmental delay, Inability to walk, Intellectual disability, Secondary microcephaly, Seizure, Status epilepticus [+]
Mouse (39 sources): abnormal GABA-mediated receptor currents, abnormal Purkinje cell morphology, abnormal abdominal wall morphology, abnormal action potential, abnormal brain interneuron morphology, abnormal central pattern generator function, abnormal cerebellar granule cell morphology, abnormal dendritic spine morphology, abnormal habituation, abnormal learning/memory/conditioning, abnormal miniature excitatory postsynaptic currents, abnormal motor capabilities/coordination/movement, abnormal motor learning, abnormal optokinetic reflex, abnormal placenta morphology, abnormal placenta vasculature, abnormal somatic nervous system physiology, abnormal summary potential, abnormal synapse morphology, abnormal tail morphology, abnormal touch/ nociception, abnormal vestibuloocular dark reflex, abnormal vestibuloocular light reflex, behavior/neurological phenotype, decreased body size, decreased vertical activity, hyporesponsive to tactile stimuli, impaired ability to fire action potentials, impaired spatial learning, increased anxiety-related response, increased susceptibility to pharmacologically induced seizures, increased thermal nociceptive threshold, neonatal lethality, complete penetrance, nervous system phenotype, postnatal lethality, complete penetrance, preweaning lethality, complete penetrance, reproductive system phenotype, trunk curl, vision/eye phenotype [+]
View all ortholog results at Monarch