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Details
Link-It Detail - Jax Mouse Phenotype - abnormal skeletal muscle fiber morphology
Debug Stats
  • ### Total Build Time: 405 ms 25.158 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= 272 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1.034 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.365 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.909 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=399 ms Completed: 399 ms rowSize= 15.860 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.179 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal skeletal muscle fiber morphology MP:0003084
Definition (1)
any structural anomaly of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles
Parents (2)
img abnormal muscle fiber morphology MP:0004087
img abnormal skeletal muscle morphology MP:0000759
Children (7)
img increased skeletal muscle fiber number MP:0009405
img decreased skeletal muscle fiber number MP:0009406
img skeletal muscle fiber degeneration MP:0009412
img abnormal skeletal muscle fiber size MP:0009398
img centrally nucleated skeletal muscle fibers MP:0009404
img abnormal skeletal muscle fiber triad morphology MP:0009411
img skeletal muscle fiber necrosis MP:0009414
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal muscle fiber morphology MP:0004087
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal skeletal muscle morphology MP:0000759
Genes (150)

Species:
human : 150
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCISD2493856CDGSH iron sulfur domain 2
Click here to display 152 evidence detail records.
HumanTRIM72493829tripartite motif containing 72
INFERRED
HumanSYPL2284612synaptophysin-like 2
Click here to display 152 evidence detail records.
HumanTRIM6384676tripartite motif containing 63, E3 ubiquitin protein ligase
INFERRED
HumanTRIM5584675tripartite motif containing 55
INFERRED
HumanOBSCN84033obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
INFERRED
HumanTLN283660talin 2
INFERRED
HumanFKRP79147fukutin related protein
Click here to display 152 evidence detail records.
HumanMYOZ158529myozenin 1
INFERRED
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
Click here to display 152 evidence detail records.
HumanSCYL157410SCY1-like 1 (S. cerevisiae)
INFERRED
HumanSEPN157190selenoprotein N, 1
INFERRED
HumanJPH156704junctophilin 1
INFERRED
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Click here to display 152 evidence detail records.
HumanPARL55486presenilin associated, rhomboid-like
INFERRED
HumanMYOZ251778myozenin 2
INFERRED
HumanVPS5451542vacuolar protein sorting 54 homolog (S. cerevisiae)
Click here to display 152 evidence detail records.
HumanPIK3R430849phosphoinositide-3-kinase, regulatory subunit 4
INFERRED
HumanSRPK326576SRSF protein kinase 3
INFERRED
HumanMYOF26509myoferlin
INFERRED
HumanLTN126046listerin E3 ubiquitin protein ligase 1
INFERRED
HumanHEY123462hairy/enhancer-of-split related with YRPW motif 1
INFERRED
HumanSYNE123345spectrin repeat containing, nuclear envelope 1
Click here to display 152 evidence detail records.
HumanTRIM3222954tripartite motif containing 32
Click here to display 152 evidence detail records.
HumanRER111079RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0003084abnormal skeletal muscle fiber morphology0self