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Details
Link-It Detail - Jax Mouse Phenotype - abnormal skeletal muscle morphology
Debug Stats
  • ### Total Build Time: 739 ms 30.400 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 398 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 289 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 183 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 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= 581 bytes
  • CONCEPT_CHILDREN gt=24 ms Completed: 24 ms rowSize= 10.252 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=703 ms Completed: 703 ms rowSize= 15.850 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.173 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal skeletal muscle morphology MP:0000759
Definition (1)
any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body
Synonyms (1)
"skeletal muscle dysplasia" EXACT
Parents (1)
img abnormal muscle morphology MP:0002108
Children (22)
img skeletal muscle degeneration MP:0009415
img abnormal laryngeal muscle morphology MP:0002263
img abnormal pharyngeal muscle morphology MP:0002253
img abnormal extraocular muscle morphology MP:0005247
img abnormal skeletal muscle fiber morphology MP:0003084
img abnormal cremaster muscle morphology MP:0011833
img decreased satellite cell number MP:0003833
img abnormal masticatory muscle morphology MP:0004234
img abnormal hypodermis muscle layer morphology MP:0011157
img absent skeletal muscle MP:0004846
img abnormal skeletal muscle mass MP:0004817
img decreased skeletal muscle fiber density MP:0009408
img abnormal epaxial muscle morphology MP:0004248
img abnormal hypaxial muscle morphology MP:0003358
img ectopic skeletal muscle MP:0010056
img increased satellite cell number MP:0000730
img skeletal muscle necrosis MP:0003852
img abnormal tongue muscle morphology MP:0004136
img skeletal muscle fibrosis MP:0009419
img abnormal skeletal muscle mechanoreceptor morphology MP:0000990
img increased skeletal muscle fiber density MP:0009407
img abnormal skeletal muscle fiber type ratio MP:0009409
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053694img abnormal muscle morphology MP:0002108
Genes (311)

Species:
human : 311
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCISD2493856CDGSH iron sulfur domain 2
Click here to display 133 evidence detail records.
HumanTRIM72493829tripartite motif containing 72
Click here to display 133 evidence detail records.
HumanEIF2AK4440275eukaryotic translation initiation factor 2 alpha kinase 4
INFERRED
HumanAGRN375790agrin
INFERRED
HumanKIF7374654kinesin family member 7
INFERRED
HumanKY339855kyphoscoliosis peptidase
Click here to display 133 evidence detail records.
HumanSYPL2284612synaptophysin-like 2
INFERRED
HumanMAMSTR284358MEF2 activating motif and SAP domain containing transcriptional regulator
INFERRED
HumanFOXK1221937forkhead box K1
INFERRED
HumanGJD4219770gap junction protein, delta 4, 40.1kDa
INFERRED
HumanSMTNL1219537smoothelin-like 1
INFERRED
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED
HumanFREM1158326FRAS1 related extracellular matrix 1
INFERRED
HumanGSC145258goosecoid homeobox
INFERRED
HumanNEURL2140825neuralized homolog 2 (Drosophila)
Click here to display 133 evidence detail records.
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
Click here to display 133 evidence detail records.
HumanEGLN2112398egl-9 family hypoxia-inducible factor 2
INFERRED
HumanFNIP196459folliculin interacting protein 1
Click here to display 133 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
HumanSOX783595SRY (sex determining region Y)-box 7
INFERRED
HumanDNAJC580331DnaJ (Hsp40) homolog, subfamily C, member 5
INFERRED
HumanFKRP79147fukutin related protein
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0000759abnormal skeletal muscle morphology0self