Mouse Genome Informatics
cx1
    Atn1tm1Rexu/Atn1tm1Rexu
Tg(Eno2-ATN1)3Tx/0

involves: C57BL/6 * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system


Mouse Genome Informatics
tg2
    Tg(Eno2-ATN1)3Tx/Tg(Eno2-ATN1)3Tx
B6.Cg-Tg(Eno2-ATN1)3Tx
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• reduced life span
• early-onset Sodium Butyrate (SB, a HDAC inhibitor) treatment (from 4 weeks old) extends their average life span (13.7%)
• late-onset (from 12 weeks old) SB treatment extends the average life span (21.5%)

nervous system
• neurons in the dentate cerebellar nucleus display somal atrophy
• extensive nuclear accumulation of Atrophin-1 and widespread nuclear inclusions in several brain regions (striatum, cortex, thalamus, red nucleus, dentate cerebellar nucleus, and Purkinje cells)

behavior/neurological
• progressively lose the capability to coordinate and balance in the rotarod test and the hanging wire test
• early-onset Sodium Butyrate (SB, a HDAC inhibitor) treatment (from 4 weeks old) delays the onset of motor impairments

Mouse Models of Human Disease
OMIM IDRef(s)
Dentatorubral-Pallidoluysian Atrophy; DRPLA 125370 J:112706


Mouse Genome Informatics
tg3
    Tg(Eno2-ATN1)3Tx/0
B6.Cg-Tg(Eno2-ATN1)3Tx
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• no neurodegeneration
• much weaker nuclear accumulation and nearly no inclusions
• normal life span (>60 week)