Phenotypes Associated with This Genotype

Genotype
MGI:3804855

• Allelic Composition: Tg(Prnp-ATXN3)CVcg/Tg(Prnp-ATXN3)CVcg
• Genetic Background: involves: C3H/HeJ * C57BL/6

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

growth/size/body

weight loss ( J:96574 )

• body weight progressively decreases, with weight only 40-60% of controls at moribund stage

behavior/neurological

increased grooming behavior ( J:96574 )

• excessive grooming is observed at 2-3 months

impaired righting response ( J:96574 )

• progressively deteriorating from 2.5 months

limb grasping ( J:96574 )

• at 2-3 months, mice display transiently clutched paws; at 3-5 months, paws are permanently clenched

tremors ( J:96574 )

• at 2-3 months of age, mice develop tremor; more pronounced at 4-8 months

ataxia ( J:96574 )

• at 2-3 months, mice exhibit lateral body displacement while climbing, and display transiently uncoordinated limb extension (much more prolonged at 3-5 months)

impaired coordination ( J:96574 )

• mice can not remain on rotating rod, starting at 1.75 months

decreased grip strength ( J:96574 )

• grip strength in fore- and hindlimbs is progressively impaired from 1.75 months of age

abnormal gait ( J:96574 )

• mice develop progressively deteriorating gait from 2-3 months of age (gait is wide-based initially, wide-based and dragged at late stage, and scribbled at later to moribund stages)

decreased locomotor activity ( J:96574 )

• open-field activity is lower and progressively decreases from 1.75 months

seizures ( J:96574 )

• occasional seizures displayed at 3-5 months

nervous system

seizures ( J:96574 )

• occasional seizures displayed at 3-5 months

decreased dopaminergic neuron number ( J:96574 )

• total number of tyrosine hydroxylase-positive neurons in substantia nigra is 38% lower than in controls

neuronal intranuclear inclusions ( J:96574 )

• these are prominent (larger and more abundant) in neurons in selected brain regions and spinal cord compared to wild-type controls a 3-4 months worsening with age; in spinal cord, inclusions are observed in motor and sensory neurons

reproductive system

abnormal testis morphology ( J:121039 )

♂

reduced male fertility ( J:121039 )

♂

homeostasis/metabolism

decreased circulating follicle stimulating hormone level ( J:121039 )

• serum concentration is significantly lower in males than in wild-type males

skeleton

kyphosis ( J:96574 )

• starts to develop at 2-3months; at 3-5 months, mice show pronounced hunchback with low pelvic elevation and muscle wasting

endocrine/exocrine glands

abnormal testis morphology ( J:121039 )

♂