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Details
Link-It Detail - Jax Mouse Phenotype - abnormal endplate potential
Debug Stats
  • ### Total Build Time: 24 ms 14.278 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 286 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 179 bytes
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  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
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  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 589 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.580 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 9.979 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal endplate potential MP:0002914
Definition (1)
defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials
Synonyms (1)
"abnormal EPP activity" EXACT
Parents (1)
img abnormal PNS synaptic transmission MP:0002913
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img abnormal PNS synaptic transmission MP:0002913
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanDNAJC580331DnaJ (Hsp40) homolog, subfamily C, member 5
Click here to display 20 evidence detail records.
HumanRIMS122999regulating synaptic membrane exocytosis 1
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HumanUCHL17345ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Click here to display 20 evidence detail records.
HumanSNAP256616synaptosomal-associated protein, 25kDa
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HumanSMN26607survival of motor neuron 2, centromeric
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HumanSMN16606survival of motor neuron 1, telomeric
Click here to display 20 evidence detail records.
HumanSLC18A36572solute carrier family 18 (vesicular acetylcholine transporter), member 3
Click here to display 20 evidence detail records.
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
Click here to display 20 evidence detail records.
HumanPRKCQ5588protein kinase C, theta
Click here to display 20 evidence detail records.
HumanMUSK4593muscle, skeletal, receptor tyrosine kinase
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HumanLRP44038low density lipoprotein receptor-related protein 4
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HumanHSPG23339heparan sulfate proteoglycan 2
Click here to display 20 evidence detail records.
HumanEEF1A21917eukaryotic translation elongation factor 1 alpha 2
Click here to display 20 evidence detail records.
HumanCOL13A11305collagen, type XIII, alpha 1
Click here to display 20 evidence detail records.
HumanCHRNG1146cholinergic receptor, nicotinic, gamma (muscle)
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HumanCHRNA11134cholinergic receptor, nicotinic, alpha 1 (muscle)
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XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0002914abnormal endplate potential0self