Mouse Genome Informatics
tg
    Tg(ATN1*)Q129Stsu/0
involves: 129S/SvEv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die by 16 weeks of age

nervous system
• at 11 weeks, mice exhibit epilepsy
• early epilepsy is induced by tactile stimuli and later epilepsy occurs spontaneously
• progressive beginning at 4 weeks
• brain weight is less than normal at 4 weeks and progressively loses weight after 6 weeks prior to the onset of body weight loss
• progressive decrease in size beginning at 4 weeks
• at P4, intranuclear accumulation of mutant protein is observed in the central nervous system unlike in wild-type mice
• neuronal intranuclear inclusions are observed at 9 weeks
• at 12 weeks, the lumped membrane capacitance of Purkinje cell's dendritic tree is smaller while the lumped resistance is greater than in wild-type mice
• at 12 weeks, the paired pulse ratios for climbing fiber excitatory postsynaptic current and parallel fiber excitatory postsynaptic current are smaller than in wild-type mice
• the ratio of NMDA to AMPA currents is larger than in wild-type mice despite the I-V relationship of AMPA, NMDA, and gamma-aminobutyrate type a currents being unchanged
• AMPA- and GABAa-induced currents are smaller than in wild-type mice
• at 12 to 15 weeks, field excitatory postsynaptic potential slopes are smaller than in wild-type mice
• long term potentiation (LTP) after tetanus is lower than in wild-type mice
• however, late-phase LTP after four trains of titanic stimulation is normal
• at 4 to 5 weeks, paired pulse facilitation is converted into paired-pulse depression

behavior/neurological
• at 8 weeks
• at 3 weeks of age, mice exhibit myoclonic movement and mild ataxia that progresses with age
• at 3 weeks of age, mice exhibit myoclonic movement and mild ataxia that progresses with age
• myoclonic movement is more evident with limbs outstretched but no clasping is observed
• at 11 weeks, mice exhibit epilepsy
• early epilepsy is induced by tactile stimuli and later epilepsy occurs spontaneously

homeostasis/metabolism

renal/urinary system
• at 5 weeks

growth/size
• at 7 weeks

Mouse Models of Human Disease
OMIM IDRef(s)
Dentatorubral-Pallidoluysian Atrophy; DRPLA 125370 J:144379