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Details
Link-It Detail - Jax Mouse Phenotype - skeletal muscle degeneration
Debug Stats
  • ### Total Build Time: 32 ms 83.586 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 245 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=6 ms Completed: 6 ms rowSize= 1.021 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 591 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.896 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 77.166 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
skeletal muscle degeneration MP:0009415
Definition (1)
pathological deterioration of skeletal muscle tissue, often accompanied by loss of function
Parents (2)
img muscle degeneration MP:0000749
img abnormal skeletal muscle morphology MP:0000759
Children (1)
img skeletal muscle fiber degeneration MP:0009412
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img muscle degeneration MP:0000749
img mammalian phenotype MP:0000001img muscle phenotype MP:00053695img abnormal skeletal muscle morphology MP:0000759
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanFKRP79147fukutin related protein
INFERRED
HumanPIK3R430849phosphoinositide-3-kinase, regulatory subunit 4
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP
HumanMYOF26509myoferlin
INFERRED
HumanBAG39531BCL2-associated athanogene 3
INFERRED
HumanLARGE9215like-glycosyltransferase
INFERRED
HumanDYSF8291dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
INFERRED
HumanSMN26607survival of motor neuron 2, centromeric
INFERRED
HumanSMN16606survival of motor neuron 1, telomeric
INFERRED
HumanSGCB6443sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
INFERRED
HumanRYR16261ryanodine receptor 1 (skeletal)
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
img Jax MP
img Jax MP
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
HumanPRKDC5591protein kinase, DNA-activated, catalytic polypeptide
INFERRED
HumanPFKM5213phosphofructokinase, muscle
INFERRED
HumanMYH44622myosin, heavy chain 4, skeletal muscle
INFERRED
HumanLMNA4000lamin A/C
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
HumanHMBS3145hydroxymethylbilane synthase
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
img Jax MP
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
HumanMTOR2475mechanistic target of rapamycin (serine/threonine kinase)
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
img Jax MP
img Jax MP
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
HumanDUSP11843dual specificity phosphatase 1
INFERRED
HumanDMD1756dystrophin
INFERRED
HumanCFL21073cofilin 2 (muscle)
INFERRED
HumanCAPN3825calpain 3, (p94)
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
HumanACVR190activin A receptor, type I
img Jax MP, Pubmed Id: 18003898, MOUSE PHENOTYPE ID: MGI:99659
img Jax MP, Pubmed Id: 20592470, MOUSE PHENOTYPE ID: MGI:107437
img Jax MP, Pubmed Id: 20008564, MOUSE PHENOTYPE ID: MGI:1928394
img Jax MP, Pubmed Id: 21145579, MOUSE PHENOTYPE ID: MGI:109558
img Jax MP, Pubmed Id: 12748643, MOUSE PHENOTYPE ID: MGI:96794
img Jax MP, Pubmed Id: 22508565, MOUSE PHENOTYPE ID: MGI:87911
img Jax MP
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440446
img Jax MP
img Jax MP, Pubmed Id: 8563760, MOUSE PHENOTYPE ID: MGI:96112
img Jax MP, Pubmed Id: 20147319, MOUSE PHENOTYPE ID: MGI:4440447
img Jax MP, Pubmed Id: 23630012, MOUSE PHENOTYPE ID: MGI:1922919
img Jax MP, Pubmed Id: 23382207, MOUSE PHENOTYPE ID: MGI:5463118
img Jax MP, Pubmed Id: 18272483, MOUSE PHENOTYPE ID: MGI:3576656
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0009415skeletal muscle degeneration0self