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Details
Link-It Detail - Jax Mouse Phenotype - abnormal Z lines
Debug Stats
  • ### Total Build Time: 59 ms 14.016 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 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= 173 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=5 ms Completed: 5 ms rowSize= 584 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1,023 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 1.567 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 8.732 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 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 Z 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