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Details
Link-It Detail - Jax Mouse Phenotype - centrally nucleated skeletal muscle fibers
Debug Stats
  • ### Total Build Time: 468 ms 21.837 KB
  • CONCEPT_NAME gt=7 ms Completed: 6 ms rowSize= 412 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 339 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 210 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=12 ms Completed: 12 ms rowSize= 596 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=10 ms Completed: 10 ms rowSize= 1.579 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=426 ms Completed: 426 ms rowSize= 17.405 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.180 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
centrally nucleated skeletal muscle fibers MP:0009404
Definition (1)
cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy
Synonyms (1)
"centrally localized nuclei in skeletal muscle fibers" EXACT
Parents (1)
img abnormal skeletal muscle fiber morphology MP:0003084
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053696img abnormal skeletal muscle fiber morphology MP:0003084
Genes (57)

Species:
human : 57
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SpeciesGeneGeneIdGene NameEvidence
HumanTRIM72493829tripartite motif containing 72
Click here to display 121 evidence detail records.
HumanOBSCN84033obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Click here to display 121 evidence detail records.
HumanTLN283660talin 2
Click here to display 121 evidence detail records.
HumanFKRP79147fukutin related protein
Click here to display 121 evidence detail records.
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
Click here to display 121 evidence detail records.
HumanSCYL157410SCY1-like 1 (S. cerevisiae)
Click here to display 121 evidence detail records.
HumanSEPN157190selenoprotein N, 1
Click here to display 121 evidence detail records.
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Click here to display 121 evidence detail records.
HumanPIK3R430849phosphoinositide-3-kinase, regulatory subunit 4
Click here to display 121 evidence detail records.
HumanSRPK326576SRSF protein kinase 3
Click here to display 121 evidence detail records.
HumanSYNE123345spectrin repeat containing, nuclear envelope 1
Click here to display 121 evidence detail records.
HumanTRIM3222954tripartite motif containing 32
Click here to display 121 evidence detail records.
HumanAFG3L210939AFG3 ATPase family member 3-like 2 (S. cerevisiae)
Click here to display 121 evidence detail records.
HumanMBNL210150muscleblind-like splicing regulator 2
Click here to display 121 evidence detail records.
HumanH6PD9563hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Click here to display 121 evidence detail records.
HumanLARGE9215like-glycosyltransferase
Click here to display 121 evidence detail records.
HumanTCAP8557titin-cap
Click here to display 121 evidence detail records.
HumanDYSF8291dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Click here to display 121 evidence detail records.
HumanVCP7415valosin containing protein
Click here to display 121 evidence detail records.
HumanUTRN7402utrophin
Click here to display 121 evidence detail records.
HumanTTN7273titin
Click here to display 121 evidence detail records.
HumanSMN26607survival of motor neuron 2, centromeric
Click here to display 121 evidence detail records.
HumanSMN16606survival of motor neuron 1, telomeric
Click here to display 121 evidence detail records.
HumanSGCB6443sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
Click here to display 121 evidence detail records.
HumanSGCA6442sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Click here to display 121 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0009404centrally nucleated skeletal muscle fibers0self