Phenotypes Associated with This Genotype

Genotype
MGI:3052930

• Allelic Composition: Mbnl1^tm1Sws/Mbnl1^tm1Sws
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

muscle

abnormal skeletal muscle fiber morphology ( J:86903 )

• splitting of myofibers

• no major degeneration was detected up to 11 weeks of age

centrally nucleated skeletal muscle fibers ( J:86903 )

• increased nuclei number and central position within myofiber

abnormal muscle physiology ( J:86903 )

• myotonia noted in homozygotes beginning at 6 weeks of age

• delayed muscle relaxation was noticeable after a rest

• electromyographic recordings confirmed myotonic discharges

vision/eye

cataract ( J:86903 )

• mature cataracts seen at 8 months; progressive with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myotonic disease		DOID:450		J:86903