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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal skeletal muscle morphology
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Accession:MP:0000759 term browser browse the term
Definition:any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body
Synonyms:exact_synonym: skeletal muscle abnormalities;   skeletal muscle dysplasia
 broad_synonym: abnormal skeletal muscles
 related_synonym: abnormal striated muscle morphology


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abnormal soleus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bckdk branched chain ketoacid dehydrogenase kinase IAGP DNA:missense mutation:cds:G369E (rat) RGD PMID:27472223 RGD:39131293 NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633 		JBrowse link
centrally nucleated skeletal muscle fibers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
decreased gastrocnemius weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
decreased skeletal muscle fiber diameter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25310701 PMID:25005781 RGD:12880034, RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
decreased tibialis anterior weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25310701 RGD:12880034 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP RGD PMID:32259258 RGD:39457703
increased skeletal muscle fiber size term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mstn myostatin IMP compared to wild type RGD PMID:25640143 RGD:151347429 NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933 		JBrowse link
G Mstnem1Mcwi myostatin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:25640143 RGD:151347429
increased skeletal muscle glycogen level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IMP compared to wild type RGD PMID:30616503 RGD:150573710 NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Abcc8em1Cgen ATP binding cassette subfamily C member 8; TALEN induced mutant 1, Cgen IMP compared to wild type RGD PMID:30616503 RGD:150573710
G Tbc1d1 TBC1 domain family member 1 induces IMP RGD PMID:28808062 RGD:150521563 NCBI chr14:43,936,820...44,135,133
Ensembl chr14:43,935,636...44,136,499 		JBrowse link
G Tbc1d1Tn(sb)1Fkh TBC1 domain family member 1; Sleeping Beauty induced mutant 1, Fkh induces IMP RGD PMID:28808062 RGD:150521563
increased skeletal muscle mass term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mstn myostatin IMP compared to wild type RGD PMID:25640143 RGD:151347429 NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933 		JBrowse link
G Mstnem1Mcwi myostatin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to wild type RGD PMID:25640143 RGD:151347429
increased skeletal muscle weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pparg peroxisome proliferator-activated receptor gamma induces IAGP RGD PMID:27381370 RGD:127285618 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargm1Kyo peroxisome proliferator-activated receptor gamma; ENU induced mutant 1, Kyo induces IAGP RGD PMID:27381370 RGD:127285618
increased tibialis anterior weight term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin IMP RGD PMID:25005781 RGD:11040981 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 5402
    muscle phenotype 199
      abnormal muscle morphology 98
        abnormal skeletal muscle morphology 24
          abnormal abdominal muscle morphology 0
          abnormal cremaster muscle morphology 0
          abnormal epaxial muscle morphology 0
          abnormal extraocular muscle morphology + 0
          abnormal facial muscle morphology + 0
          abnormal hypaxial muscle morphology + 11
          abnormal hypodermis muscle layer morphology + 0
          abnormal multifidus muscle morphology 0
          abnormal neck muscle morphology + 0
          abnormal pharyngeal muscle morphology + 0
          abnormal skeletal muscle fiber morphology + 8
          abnormal skeletal muscle fiber type ratio 0
          abnormal skeletal muscle glycogen level + 7
          abnormal skeletal muscle mass + 6
          abnormal skeletal muscle mechanoreceptor morphology + 0
          abnormal skeletal muscle triglyceride level + 0
          abnormal soft palate muscle morphology + 0
          abnormal tongue muscle morphology + 0
          abnormal tympanic cavity muscle morphology + 0
          absent skeletal muscle 0
          decreased satellite cell number 0
          decreased skeletal muscle fiber density 0
          ectopic skeletal muscle 0
          increased satellite cell number 0
          increased skeletal muscle fiber density 0
          rhabdomyolysis 0
          skeletal muscle degeneration + 0
          skeletal muscle fibrosis + 0
          skeletal muscle necrosis + 0
paths to the root