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Details
Link-It Detail - Jax Mouse Phenotype - dystonia
Debug Stats
  • ### Total Build Time: 42 ms 15.914 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 314 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=2 ms Completed: 2 ms rowSize= 1.017 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 2.906 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 10.050 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
dystonia MP:0005323
Definition (1)
impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs
Parents (2)
img abnormal muscle tone MP:0004142
img abnormal locomotor activation MP:0003313
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal muscle tone MP:0004142
img mammalian phenotype MP:0000001img behavior/neurological phenotype MP:00053868img abnormal locomotor activation MP:0003313
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
Click here to display 41 evidence detail records.
HumanATCAY85300ataxia, cerebellar, Cayman type
Click here to display 41 evidence detail records.
HumanPANK280025pantothenate kinase 2
Click here to display 41 evidence detail records.
HumanHIPK228996homeodomain interacting protein kinase 2
Click here to display 41 evidence detail records.
HumanHTRA227429HtrA serine peptidase 2
Click here to display 41 evidence detail records.
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
Click here to display 41 evidence detail records.
HumanTTPA7274tocopherol (alpha) transfer protein
Click here to display 41 evidence detail records.
HumanSOX26657SRY (sex determining region Y)-box 2
Click here to display 41 evidence detail records.
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
Click here to display 41 evidence detail records.
HumanPTS58056-pyruvoyltetrahydropterin synthase
Click here to display 41 evidence detail records.
HumanPEX75191peroxisomal biogenesis factor 7
Click here to display 41 evidence detail records.
HumanNGFR4804nerve growth factor receptor
Click here to display 41 evidence detail records.
HumanINPP4A3631inositol polyphosphate-4-phosphatase, type I, 107kDa
Click here to display 41 evidence detail records.
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
Click here to display 41 evidence detail records.
HumanERCC12067excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Click here to display 41 evidence detail records.
HumanCACNA1A773calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Click here to display 41 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005323dystonia0self