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Details
Link-It Detail - Jax Mouse Phenotype - abnormal sarcomere morphology
Debug Stats
  • ### Total Build Time: 71 ms 21.501 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 366 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= 587 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.002 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.570 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=66 ms Completed: 66 ms rowSize= 16.310 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal sarcomere morphology MP:0004090
Definition (1)
any structural anomaly in the segment of a myofibril between two Z lines comprised of multi-protein complexes composed of three different filament systems; these systems work together to contract and relax muscle
Parents (1)
img abnormal muscle fiber morphology MP:0004087
Children (2)
img abnormal M lines MP:0004094
img abnormal Z lines MP:0004091
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal muscle fiber morphology MP:0004087
Genes (42)

Species:
human : 42
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SpeciesGeneGeneIdGene NameEvidence
HumanCISD2493856CDGSH iron sulfur domain 2
Click here to display 49 evidence detail records.
HumanXIRP1165904xin actin-binding repeat containing 1
Click here to display 49 evidence detail records.
HumanTRIM6384676tripartite motif containing 63, E3 ubiquitin protein ligase
INFERRED
HumanTRIM5457159tripartite motif containing 54
Click here to display 49 evidence detail records.
HumanMESP155897mesoderm posterior 1 homolog (mouse)
Click here to display 49 evidence detail records.
HumanFOXP127086forkhead box P1
Click here to display 49 evidence detail records.
HumanANKRD127063ankyrin repeat domain 1 (cardiac muscle)
Click here to display 49 evidence detail records.
HumanDAAM123002dishevelled associated activator of morphogenesis 1
Click here to display 49 evidence detail records.
HumanAKAP1311214A kinase (PRKA) anchor protein 13
Click here to display 49 evidence detail records.
HumanPDLIM510611PDZ and LIM domain 5
INFERRED
HumanBCAR19564breast cancer anti-estrogen resistance 1
INFERRED
HumanBAG39531BCL2-associated athanogene 3
Click here to display 49 evidence detail records.
HumanDNAJA39093DnaJ (Hsp40) homolog, subfamily A, member 3
Click here to display 49 evidence detail records.
HumanTCAP8557titin-cap
Click here to display 49 evidence detail records.
HumanVEGFA7422vascular endothelial growth factor A
Click here to display 49 evidence detail records.
HumanVCP7415valosin containing protein
Click here to display 49 evidence detail records.
HumanTTN7273titin
Click here to display 49 evidence detail records.
HumanTNNT27139troponin T type 2 (cardiac)
Click here to display 49 evidence detail records.
HumanTNNI37137troponin I type 3 (cardiac)
Click here to display 49 evidence detail records.
HumanTMOD17111tropomodulin 1
Click here to display 49 evidence detail records.
HumanTLN17094talin 1
Click here to display 49 evidence detail records.
HumanSLC8A16546solute carrier family 8 (sodium/calcium exchanger), member 1
INFERRED
HumanRYR16261ryanodine receptor 1 (skeletal)
Click here to display 49 evidence detail records.
HumanPDPK151703-phosphoinositide dependent protein kinase-1
INFERRED
HumanMYL24633myosin, light chain 2, regulatory, cardiac, slow
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004090abnormal sarcomere morphology0self