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Details
Link-It Detail - Jax Mouse Phenotype - abnormal Z lines
Debug Stats
  • ### Total Build Time: 44 ms 14.026 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 335 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 184 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=3 ms Completed: 3 ms rowSize= 584 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1,023 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.567 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=33 ms Completed: 33 ms rowSize= 8.732 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal Z lines MP:0004091
Definition (1)
any structural anomaly in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
Synonyms (1)
"abnormal intermediate disk" EXACT
Parents (1)
img abnormal sarcomere morphology MP:0004090
Children (2)
img diffuse Z lines MP:0004093
img absent Z lines MP:0004092
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053696img abnormal sarcomere morphology MP:0004090
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanTRIM6384676tripartite motif containing 63, E3 ubiquitin protein ligase
Click here to display 22 evidence detail records.
HumanPDLIM510611PDZ and LIM domain 5
Click here to display 22 evidence detail records.
HumanBCAR19564breast cancer anti-estrogen resistance 1
Click here to display 22 evidence detail records.
HumanSLC8A16546solute carrier family 8 (sodium/calcium exchanger), member 1
INFERRED
HumanRYR16261ryanodine receptor 1 (skeletal)
Click here to display 22 evidence detail records.
HumanPDPK151703-phosphoinositide dependent protein kinase-1
Click here to display 22 evidence detail records.
HumanMYL24633myosin, light chain 2, regulatory, cardiac, slow
Click here to display 22 evidence detail records.
HumanMTM14534myotubularin 1
Click here to display 22 evidence detail records.
HumanITPA3704inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
INFERRED
HumanGAA2548glucosidase, alpha; acid
Click here to display 22 evidence detail records.
HumanDMPK1760dystrophia myotonica-protein kinase
INFERRED
HumanCOL13A11305collagen, type XIII, alpha 1
Click here to display 22 evidence detail records.
HumanCFL21073cofilin 2 (muscle)
Click here to display 22 evidence detail records.
HumanCALR811calreticulin
Click here to display 22 evidence detail records.
HumanBIN1274bridging integrator 1
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004091abnormal Z lines0self