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 EuPh Europhenome
N normal phenotype
muscle
• splitting of myofibers
• no major degeneration was detected up to 11 weeks of age
• increased nuclei number and central position within myofiber
• 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
• mature cataracts seen at 8 months; progressive with age

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