Ntn5

Mus musculus

PHENOTYPE: Mice homozygous for a knock-out allele exhibit ectopic motor neurons that migrate out of the ventral horn and into the motor roots. [provided by MGI curators]

Kcnd2

Mus musculus

PHENOTYPE: Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli. [provided by MGI curators]

dlg2

Mus musculus

PHENOTYPE: Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain. [provided by MGI curators]

Lhx5

Mus musculus

PHENOTYPE: Most mice homozygous for a null mutation display defective hippocampal development and die within a few days after birth. Postmitotic hippocampal cells are unable to differentiate properly and migrate to correct positions, resulting in structural anomalies of the Ammon's horn and the dentate gyrus. [provided by MGI curators]

Dync1h1

Mus musculus

PHENOTYPE: Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. Homozygosity for the p.K3334N mutation is embryonic lethal. Heterozygosity affects cerebral cortex cell proliferation and migration and leads to small body and brain size, abnormal locomotion and early death. [provided by MGI curators]

Atp7a

Homo sapiens

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]

Atp7a

Rattus norvegicus

Enables protein-folding chaperone binding activity and small GTPase binding activity. Involved in several processes, including cellular response to cobalt ion; cellular response to lead ion; and cellular response to platelet-derived growth factor stimulus. Located in several cellular components, including basolateral plasma membrane; brush border membrane; and cytoplasmic vesicle. Biomarker of Alzheimer's disease; Wilson disease; congenital diaphragmatic hernia; and iron deficiency anemia. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha); PARTICIPATES IN cisplatin drug pathway; INTERACTS WITH 1,2-dimethylhydrazine; 2,2,2-tetramine; 2,3,7,8-tetrachlorodibenzodioxine.