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Details
Link-It Detail - Jax Mouse Phenotype - abnormal PNS synaptic transmission
Debug Stats
  • ### Total Build Time: 69 ms 101.436 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 257 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 585 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.033 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.576 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=55 ms Completed: 55 ms rowSize= 96.301 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal PNS synaptic transmission MP:0002913
Definition (1)
defect in the communication from a neuron to a target across a synapse in the peripheral nervous system
Parents (1)
img abnormal synaptic transmission MP:0003635
Children (2)
img abnormal endplate potential MP:0002914
img abnormal miniature endplate potential MP:0004835
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036315img abnormal synaptic transmission MP:0003635
Genes (31)

Species:
human : 31
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSYT2127833synaptotagmin II
INFERRED
HumanDNAJC580331DnaJ (Hsp40) homolog, subfamily C, member 5
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
HumanNBEA26960neurobeachin
INFERRED
HumanRIMS122999regulating synaptic membrane exocytosis 1
INFERRED
HumanCACNA2D29254calcium channel, voltage-dependent, alpha 2/delta subunit 2
INFERRED
HumanUSP149097ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
INFERRED
HumanUTRN7402utrophin
INFERRED
HumanUCHL17345ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
HumanSNTB26645syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
INFERRED
HumanSNAP256616synaptosomal-associated protein, 25kDa
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
HumanSMN26607survival of motor neuron 2, centromeric
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
HumanSMN16606survival of motor neuron 1, telomeric
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
HumanSLC18A36572solute carrier family 18 (vesicular acetylcholine transporter), member 3
INFERRED
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
INFERRED
HumanPRKCQ5588protein kinase C, theta
INFERRED
HumanMUSK4593muscle, skeletal, receptor tyrosine kinase
INFERRED
HumanMMP34314matrix metallopeptidase 3 (stromelysin 1, progelatinase)
INFERRED
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
HumanLRP44038low density lipoprotein receptor-related protein 4
INFERRED
HumanLAMB23913laminin, beta 2 (laminin S)
INFERRED
HumanKCNA13736potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
HumanHSPG23339heparan sulfate proteoglycan 2
INFERRED
HumanGARS2617glycyl-tRNA synthetase
img Jax MP, Pubmed Id: 20826664, MOUSE PHENOTYPE ID: MGI:109257
img Jax MP, Pubmed Id: 15091340, MOUSE PHENOTYPE ID: MGI:892995
img Jax MP, Pubmed Id: 9151734, MOUSE PHENOTYPE ID: MGI:5468689
img Jax MP, Pubmed Id: 15003170, MOUSE PHENOTYPE ID: MGI:109482
img Jax MP, Pubmed Id: 16982418, MOUSE PHENOTYPE ID: MGI:2449057
img Jax MP, Pubmed Id: 8917583, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 22178625, MOUSE PHENOTYPE ID: MGI:87894
img Jax MP, Pubmed Id: 9110980, MOUSE PHENOTYPE ID: MGI:96083
img Jax MP, Pubmed Id: 20080621, MOUSE PHENOTYPE ID: MGI:103149
img Jax MP, Pubmed Id: 11805078, MOUSE PHENOTYPE ID: MGI:2384966
img Jax MP, Pubmed Id: 11753414, MOUSE PHENOTYPE ID: MGI:98331
img Jax MP, Pubmed Id: 12533614, MOUSE PHENOTYPE ID: MGI:88392
img Jax MP, Pubmed Id: 17325042, MOUSE PHENOTYPE ID: MGI:2447634
img Jax MP, Pubmed Id: 9736643, MOUSE PHENOTYPE ID: MGI:96654
HumanEEF1A21917eukaryotic translation elongation factor 1 alpha 2
INFERRED
HumanCOL13A11305collagen, type XIII, alpha 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0002913abnormal PNS synaptic transmission0self