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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:centrally nucleated skeletal muscle fibers
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Accession:MP:0009404 term browser browse the term
Definition:cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy
Synonyms:exact_synonym: centrally localized nuclei in skeletal muscle fibers;   centrally localized nuclei in skeletal muscle fibres;   centrally nucleated skeletal muscle fibres;   nuclear rowing in muscle
 broad_synonym: centronuclear myopathy


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centrally nucleated skeletal muscle fibers term browser
Symbol Object Name 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
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  mammalian phenotype 5402
    muscle phenotype 199
      abnormal muscle morphology 98
        abnormal muscle fiber morphology 15
          abnormal skeletal muscle fiber morphology 8
            centrally nucleated skeletal muscle fibers 3
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