Mouse Genome Informatics
hm1
     Mbnl1tm1Sws/Mbnl1tm1Sws
involves: 129S1/Sv * C57BL/6J
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
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
cataracts ( J:86903 )
• mature cataracts seen at 8 months; progressive with age

Mouse Models of Human Disease
 OMIM IDRef(s)
Myotonic Dystrophy 1; DM1 160900 J:86903