Phenotypes Associated with This Genotype

Genotype
MGI:4360690

• Allelic Composition: Tg(Eno2-ATN1)3Tx/Tg(Eno2-ATN1)3Tx
• Genetic Background: B6.Cg-Tg(Eno2-ATN1)3Tx

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

mortality/aging

premature death ( J:112706 )

• 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

abnormal cerebellum dentate nucleus morphology ( J:112706 )

• neurons in the dentate cerebellar nucleus display somal atrophy

neuronal intranuclear inclusions ( J:112706 )

• 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

limb grasping ( J:112706 )

tremors ( J:112706 )

ataxia ( J:112706 )

impaired coordination ( J:112706 )

• 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		DO ID	OMIM ID(s)	Ref(s)
dentatorubral-pallidoluysian atrophy		DOID:0060162	OMIM:125370	J:112706