Phenotypes Associated with This Genotype

Genotype
MGI:3834589

• Allelic Composition: Tg(ATN1*)Q129Stsu/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

premature death ( J:144379 )

• mice die by 16 weeks of age

nervous system

absence seizures ( J:144379 )

• at 11 weeks, mice exhibit epilepsy

• early epilepsy is induced by tactile stimuli and later epilepsy occurs spontaneously

decreased brain size ( J:144379 )

• progressive beginning at 4 weeks

decreased brain weight ( J:144379 )

• brain weight is less than normal at 4 weeks and progressively loses weight after 6 weeks prior to the onset of body weight loss

abnormal cerebral cortex morphology ( J:144379 )

• progressive decrease in size beginning at 4 weeks

neuronal intranuclear inclusions ( J:144379 )

• 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

abnormal nervous system electrophysiology ( J:144379 )

• 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

abnormal CNS synaptic transmission ( J:144379 )

• 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

abnormal GABA-mediated receptor currents ( J:144379 )

• smaller than normal

abnormal excitatory postsynaptic potential ( J:144379 )

• at 12 to 15 weeks, field excitatory postsynaptic potential slopes are smaller than in wild-type mice

reduced long-term potentiation ( J:144379 )

• 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

abnormal paired-pulse facilitation ( J:144379 )

• at 4 to 5 weeks, paired pulse facilitation is converted into paired-pulse depression

enhanced paired-pulse facilitation ( J:144379 )

• at 12 to 15 weeks

behavior/neurological

increased fluid intake ( J:144379 )

• at 8 weeks

ataxia ( J:144379 )

• at 3 weeks of age, mice exhibit myoclonic movement and mild ataxia that progresses with age

jerky movement ( J:144379 )

• 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

absence seizures ( J:144379 )

• at 11 weeks, mice exhibit epilepsy

• early epilepsy is induced by tactile stimuli and later epilepsy occurs spontaneously

homeostasis/metabolism

decreased blood osmolality ( J:144379 )

• at 8 weeks

decreased circulating antidiuretic hormone level ( J:144379 )

• at 8 weeks

decreased urine osmolality ( J:144379 )

• at 8 weeks

renal/urinary system

decreased urine osmolality ( J:144379 )

• at 8 weeks

polyuria ( J:144379 )

• at 5 weeks

growth/size/body

decreased body weight ( J:144379 )

• at 7 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dentatorubral-pallidoluysian atrophy		DOID:0060162	OMIM:125370	J:144379