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Details
Link-It Detail - Jax Mouse Phenotype - abnormal sarcoplasmic reticulum morphology
Debug Stats
  • ### Total Build Time: 22 ms 45.019 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 412 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 404 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= 587 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 587 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.570 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 40.181 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.180 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal sarcoplasmic reticulum morphology MP:0004088
Definition (1)
any structural anomaly in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere
Parents (1)
img abnormal muscle fiber morphology MP:0004087
Children (1)
img dilated sarcoplasmic reticulum MP:0004089
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal muscle fiber morphology MP:0004087
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanCISD2493856CDGSH iron sulfur domain 2
INFERRED
HumanSYPL2284612synaptophysin-like 2
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
HumanOBSCN84033obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
HumanMTMR1464419myotubularin related protein 14
INFERRED
HumanJPH156704junctophilin 1
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
HumanTRDN10345triadin
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
HumanSRL6345sarcalumenin
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
HumanDMPK1760dystrophia myotonica-protein kinase
INFERRED
HumanDMD1756dystrophin
INFERRED
HumanCASQ1844calsequestrin 1 (fast-twitch, skeletal muscle)
img Jax MP, Pubmed Id: 10613905, MOUSE PHENOTYPE ID: MGI:1328311
img Jax MP, Pubmed Id: 11535622, MOUSE PHENOTYPE ID: MGI:1891495
img Jax MP, Pubmed Id: 19584095, MOUSE PHENOTYPE ID: MGI:2681862
img Jax MP, Pubmed Id: 19843516, MOUSE PHENOTYPE ID: MGI:1924007
img Jax MP, Pubmed Id: 9525981, MOUSE PHENOTYPE ID: MGI:2389056
img Jax MP, Pubmed Id: 19046573, MOUSE PHENOTYPE ID: MGI:5499105
img Jax MP, Pubmed Id: 17627988, MOUSE PHENOTYPE ID: MGI:1309468
img Jax MP, Pubmed Id: 15569689, MOUSE PHENOTYPE ID: MGI:2146620
HumanCACNA1S779calcium channel, voltage-dependent, L type, alpha 1S subunit
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004088abnormal sarcoplasmic reticulum morphology0self