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Details
Link-It Detail - Jax Mouse Phenotype - abnormal muscle tone
Debug Stats
  • ### Total Build Time: 23 ms 20.161 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 368 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 301 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= 581 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.432 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.564 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 14.642 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal muscle tone MP:0004142
Definition (1)
anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation
Parents (1)
img abnormal muscle physiology MP:0002106
Children (3)
img hypotonia MP:0004144
img muscle hypertonia MP:0004143
img dystonia MP:0005323
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053694img abnormal muscle physiology MP:0002106
Genes (53)

Species:
human : 53
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC32A1140679solute carrier family 32 (GABA vesicular transporter), member 1
INFERRED
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
INFERRED
HumanATCAY85300ataxia, cerebellar, Cayman type
INFERRED
HumanPANK280025pantothenate kinase 2
INFERRED
HumanMYOZ158529myozenin 1
Click here to display 17 evidence detail records.
HumanHIPK228996homeodomain interacting protein kinase 2
INFERRED
HumanHTRA227429HtrA serine peptidase 2
INFERRED
HumanPPARGC1A10891peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
INFERRED
HumanOLIG210215oligodendrocyte lineage transcription factor 2
INFERRED
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
INFERRED
HumanSLC6A59152solute carrier family 6 (neurotransmitter transporter), member 5
INFERRED
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
INFERRED
HumanZIC17545Zic family member 1
INFERRED
HumanTTPA7274tocopherol (alpha) transfer protein
INFERRED
HumanSOX26657SRY (sex determining region Y)-box 2
INFERRED
HumanSOD26648superoxide dismutase 2, mitochondrial
INFERRED
HumanSMN26607survival of motor neuron 2, centromeric
INFERRED
HumanSMN16606survival of motor neuron 1, telomeric
INFERRED
HumanSLC18A36572solute carrier family 18 (vesicular acetylcholine transporter), member 3
INFERRED
HumanSLC6A96536solute carrier family 6 (neurotransmitter transporter, glycine), member 9
INFERRED
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
INFERRED
HumanPTS58056-pyruvoyltetrahydropterin synthase
INFERRED
HumanPTGS15742prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
INFERRED
HumanPLOD15351procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
INFERRED
HumanPEX135194peroxisomal biogenesis factor 13
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004142abnormal muscle tone0self