Phenotypes associated with this allele

• Allele Symbol: Klhl31^em1Eno
• Allele Name: endonuclease-mediated mutation 1, Eric N Olson
• Allele ID: MGI:6163749
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Klhl31^em1Eno/Klhl31^em1Eno	involves: C57BL/6	MGI:6201559

Genotype
MGI:6201559

hm1

• Allelic Composition: Klhl31^em1Eno/Klhl31^em1Eno
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body weight ( J:247651 )

• mice show a reduction in body weight beginning around P10

muscle

abnormal quadriceps morphology ( J:247651 )

• 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

abnormal muscle fiber morphology ( J:247651 )

• 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

abnormal sarcomere morphology ( J:247651 )

• older mice exhibit sarcomeric disarray

abnormal Z line morphology ( J:247651 )

• myofibers show Z-disc streaming and in some instances, completely degenerated Z-discs

dilated sarcoplasmic reticulum ( J:247651 )

• older mice exhibit immensely dilated sarcoplasmic reticulum network

centrally nucleated skeletal muscle fibers ( J:247651 )

• mice exhibit centronuclear myopathy

skeletal muscle fiber degeneration ( J:247651 )

• older mice exhibit myofibril degeneration

decreased muscle weight ( J:247651 )

• muscles weigh less than in wild-type mice at 6 weeks of age

myopathy ( J:247651 )

• 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

decreased grip strength ( J:247651 )

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

cellular

increased mitochondrial number ( J:247651 )

• increase in the number of mitochondria in muscle cells

limbs/digits/tail

abnormal quadriceps morphology ( J:247651 )

• 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

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