Mouse Genome Informatics
tg
    Tg(HDexon1)62Gpb/0
involves: C57BL/6J * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• usually between 10 to 13 weeks of age
• mice can die suddenly

nervous system
• handling induced seizures that can be several minutes duration
• average of 19% smaller than wildtype

behavior/neurological
• dyskinesia of limbs when suspended by the tail
• progressive resting tremor in limbs, trunk and head
• involuntary jerky shudders
• mice lose balance when sitting on hind limbs, turning and grooming their backs
• onset of motor impairment as early as 4 weeks of age
• stereotypic repetitive stroking of the nose and face, hind limb kicking and scratching movement
• 2 distinct characteristic vocalizations observed
• handling induced seizures that can be several minutes duration

endocrine/exocrine glands
• islets exhibit huntingtin inclusions in 24% of cells by 12 weeks of age
• islets exhibit huntingtin inclusions in 19% of cells by 7 weeks of age, by week 12 frequency is greater than 95%
• islets are hypotrophic by 12 weeks, BrdU incorporation is reduced 6-fold
• significant reduction in insulin and somatostatin content by 12 weeks
• islets are smaller in size by 12 weeks
• islets contain few insulin secretory vesicles by 12 weeks
• by 12 weeks, no signs of apoptosis or necrosis are observed
• islets exhibit huntingtin inclusions in 6% of cells by 12 weeks of age
(J:36689)
• small seminal ducts and gland size (J:36689)
(J:36689)

growth/size
• body weight declines after 10 weeks
• body weight is normal at weaning
• with progression of phenotype up to 30% of body weight can be lost
• overall loss of muscle bulk observed

homeostasis/metabolism
• abnormal glucose homeostasis
• insulin secretion in response to glucose and KCl is decreased 4-fold and 2.5-fold, respectively, by 12 weeks of age
• identified at 11.5 weeks of age, insulin response absent

renal/urinary system

reproductive system
• small seminal ducts and gland size (J:36689)
(J:36689)
• smaller size ovaries and uteri often observed (J:36689)
(J:36689)
(J:36689)

Mouse Models of Human Disease
OMIM IDRef(s)
Huntington Disease; HD 143100 J:36689