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Details
Link-It Detail - Jax Mouse Phenotype - abnormal neuromuscular synapse morphology
Debug Stats
  • ### Total Build Time: 345 ms 24.858 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 410 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 309 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 200 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.034 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.089 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.925 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=331 ms Completed: 331 ms rowSize= 17.590 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal neuromuscular synapse morphology MP:0001053
Definition (1)
any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses
Synonyms (1)
"abnormal neuromuscular junction morphology" EXACT
Parents (2)
img abnormal synapse morphology MP:0009538
img abnormal somatic motor system morphology MP:0001051
Children (2)
img failure of neuromuscular synapse postsynaptic differentiation MP:0001055
img failure of neuromuscular synapse presynaptic differentiation MP:0001054
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img abnormal synapse morphology MP:0009538
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img abnormal somatic motor system morphology MP:0001051
Genes (65)

Species:
human : 65
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Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanSKOR2652991SKI family transcriptional corepressor 2
Click here to display 153 evidence detail records.
HumanAGRN375790agrin
Click here to display 153 evidence detail records.
HumanKY339855kyphoscoliosis peptidase
Click here to display 153 evidence detail records.
HumanDOK7285489docking protein 7
Click here to display 153 evidence detail records.
HumanFBXO45200933F-box protein 45
Click here to display 153 evidence detail records.
HumanLRSAM190678leucine rich repeat and sterile alpha motif containing 1
Click here to display 153 evidence detail records.
HumanNKX6-284504
Click here to display 153 evidence detail records.
HumanDNAJC580331DnaJ (Hsp40) homolog, subfamily C, member 5
Click here to display 153 evidence detail records.
HumanISL264843ISL LIM homeobox 2
Click here to display 153 evidence detail records.
HumanSLC5A760482solute carrier family 5 (sodium/choline cotransporter), member 7
Click here to display 153 evidence detail records.
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
Click here to display 153 evidence detail records.
HumanSCYL157410SCY1-like 1 (S. cerevisiae)
Click here to display 153 evidence detail records.
HumanCLIP325999CAP-GLY domain containing linker protein 3
Click here to display 153 evidence detail records.
HumanSYNE123345spectrin repeat containing, nuclear envelope 1
Click here to display 153 evidence detail records.
HumanMYCBP223077MYC binding protein 2, E3 ubiquitin protein ligase
Click here to display 153 evidence detail records.
HumanRER111079RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)
Click here to display 153 evidence detail records.
HumanAFG3L210939AFG3 ATPase family member 3-like 2 (S. cerevisiae)
Click here to display 153 evidence detail records.
HumanNES10763nestin
Click here to display 153 evidence detail records.
HumanBASP110409brain abundant, membrane attached signal protein 1
Click here to display 153 evidence detail records.
HumanCACNG210369calcium channel, voltage-dependent, gamma subunit 2
Click here to display 153 evidence detail records.
HumanGPHN10243gephyrin
Click here to display 153 evidence detail records.
HumanECEL19427endothelin converting enzyme-like 1
Click here to display 153 evidence detail records.
HumanCACNA2D29254calcium channel, voltage-dependent, alpha 2/delta subunit 2
Click here to display 153 evidence detail records.
HumanSLC6A59152solute carrier family 6 (neurotransmitter transporter), member 5
Click here to display 153 evidence detail records.
HumanMADD8567MAP-kinase activating death domain
Click here to display 153 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0001053abnormal neuromuscular synapse morphology0self