Mouse Genome Informatics
tg1
    Tg(DM15)26Bew/0
involves: FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• significant neonatal lethality was seen and no homozygous pups were ever produced
• occasional lethality is seen in pregnant female mutants (J:33711)
• this phenotype became less evident in later generations (F3 and later) when male carriers were used (J:33711)

behavior/neurological
• older mutants (11-15 months of age) perform at a significantly reduced level under stress testing, with tolerated workload 3-fold lower than in controls (J:93614)
• females display reduced food intake during and after pregnancy (J:33711)
• this phenotype became less evident in later generations (F3 and later) when male carriers were used (J:33711)
• older mice exhibit sporadic yet dramatic transient episodes of walking difficulties
• females develop a hunched posture during and after pregnancy (J:33711)
• this phenotype became less evident in later generations (F3 and later) when male carriers were used (J:33711)

cardiovascular system
• local whorling interrupts the regular pattern of the myocardium (J:33711)
• increased collagen is seen in the interstitium (J:33711)
• older mice display myocyte disarray, with subcellular degenerative changes, including deformity, multiple vaculolization and mitochondria with abnormal cristae (J:93614)
• interventricular spetal thickness is increased in older mutants
• seen in old mutants; left ventricular mass is doubled
• posterior wall is thicker in older mutants
• seen in older mutants
• older mutants exhibit ventricular tachyarrhythmias
• junctional rhythm occurs with significant greater frequency in older mutants under light sedation
• P wave occurs with significantly greater frequency in older mutants under light sedation
• older mice display depressed systemic systolic and diastolic arterial pressure
• obvious cardiomyopathy is seen at 7, 9, or 21 weeks of age (J:33711)
• hypertrophic maladaptive cardiomyopathy with dysrhythmia in older mutants, recapitulating typical features of myotonic dystrophy (J:93614)
• hypertrophic cardiomyopathy is characterized by overt intracellular calcium overload (J:93614)

muscle
• local whorling interrupts the regular pattern of the myocardium (J:33711)
• increased collagen is seen in the interstitium (J:33711)
• older mice display myocyte disarray, with subcellular degenerative changes, including deformity, multiple vaculolization and mitochondria with abnormal cristae (J:93614)
• obvious cardiomyopathy is seen at 7, 9, or 21 weeks of age (J:33711)
• hypertrophic maladaptive cardiomyopathy with dysrhythmia in older mutants, recapitulating typical features of myotonic dystrophy (J:93614)
• hypertrophic cardiomyopathy is characterized by overt intracellular calcium overload (J:93614)
• skeletal muscle of older mice demonstrates central nuclei, ringed fibers, ragged and torn fibers, hypotrophy with sarcomeric disorganization and sarcoplasmic masses, and accumulation of mitochondria
• skeletal muscle of older mice exhibits a broad spectrum of fiber sizes
• skeletal muscle of older mice demonstrates central nuclei
• myotonic dystrophy in older mutants
• older mutants exhibit prolonged myotonic discharges characterized by high frequency repetitive potentials in distal limb muscles mechanically stimulated with needle insertion
• skeletal muscles of older mutants show myopathy including central nuclei, ringed fibers, ragged and torn fibers, broad spectrum of fiber sizes, hypotrophy with sarcomeric disorganization and sarcoplasmic masses, and accumulation of mitochondria

integument
• females display bristling hair during and after pregnancy (J:33711)
• this phenotype became less evident in later generations (F3 and later) when male carriers were used (J:33711)

Mouse Models of Human Disease
OMIM IDRef(s)
Myotonic Dystrophy 1; DM1 160900 J:93614