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Phenotypes Associated with This Genotype
Genotype
MGI:6201559
Allelic
Composition
Klhl31em1Eno/Klhl31em1Eno
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klhl31em1Eno mutation (0 available); any Klhl31 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice show a reduction in body weight beginning around P10

muscle
• mice show a decrease in the mean cross-sectional area of myofibers at P10, indicating hypotrophic myofibers and impaired postnatal muscle growth
• by 4 weeks of age, accumulation of internalized myonuclei and pathological desmin aggregation is seen in myofibers which is further exacerbated by 12 weeks of age
• mice contain clusters of myofibrils that lack myofilaments
• older mice exhibit sarcomeric disarray
• myofibers show Z-disc streaming and in some instances, completely degenerated Z-discs
• older mice exhibit immensely dilated sarcoplasmic reticulum network
• mice exhibit centronuclear myopathy
• older mice exhibit myofibril degeneration
• muscles weigh less than in wild-type mice at 6 weeks of age
• quadriceps exhibit protein aggregates, centralized nuclei, and a paucity of sarcomeric proteins
• quadriceps show a disorganized intermyofibrillary matrix, an increase in the number of oxidative fibers, core-like lesions, and rubbed out fibers by 4 weeks of age
• mice exhibit a congenital myopathy, showing stunted postnatal skeletal muscle growth, centronuclear myopathy, central cores, myofibrillar degeneration, large Filamin-C aggregates, and dilated sarcotubular network

behavior/neurological
• mice exhibit a decrease in muscle strength in both the forelimbs and hind limbs

cellular
• increase in the number of mitochondria in muscle cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
centronuclear myopathy DOID:14717 J:247651


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory