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Phenotypes Associated with This Genotype
Genotype
MGI:3530234
Allelic
Composition
Tg(HDexon1)62Gpb/0
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(HDexon1)62Gpb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• usually between 10 to 13 weeks of age (J:36689)
• mice can die suddenly (J:36689)
• usually between 10 to 13 weeks of age (J:36689)
• mice can die suddenly (J:36689)

nervous system
• handling induced seizures that can be several minutes duration (J:36689)
• handling induced seizures that can be several minutes duration (J:36689)
• average of 19% smaller than wildtype (J:36689)
• average of 19% smaller than wildtype (J:36689)

behavior/neurological
• dyskinesia of limbs when suspended by the tail (J:36689)
• dyskinesia of limbs when suspended by the tail (J:36689)
• progressive resting tremor in limbs, trunk and head (J:36689)
• involuntary jerky shudders (J:36689)
• progressive resting tremor in limbs, trunk and head (J:36689)
• involuntary jerky shudders (J:36689)
• mice lose balance when sitting on hind limbs, turning and grooming their backs (J:36689)
• mice lose balance when sitting on hind limbs, turning and grooming their backs (J:36689)
• onset of motor impairment as early as 4 weeks of age (J:36689)
• stereotypic repetitive stroking of the nose and face, hind limb kicking and scratching movement (J:36689)
• onset of motor impairment as early as 4 weeks of age (J:36689)
• stereotypic repetitive stroking of the nose and face, hind limb kicking and scratching movement (J:36689)
• 2 distinct characteristic vocalizations observed (J:36689)
• 2 distinct characteristic vocalizations observed (J:36689)
• handling induced seizures that can be several minutes duration (J:36689)
• handling induced seizures that can be several minutes duration (J:36689)

endocrine/exocrine glands
• islets exhibit huntingtin inclusions in 24% of cells by 12 weeks of age (J:96353)
• islets exhibit huntingtin inclusions in 24% of cells by 12 weeks of age (J:96353)
• islets exhibit huntingtin inclusions in 19% of cells by 7 weeks of age, by week 12 frequency is greater than 95% (J:96353)
• islets are hypotrophic by 12 weeks, BrdU incorporation is reduced 6-fold (J:96353)
• significant reduction in insulin and somatostatin content by 12 weeks (J:96353)
• islets are smaller in size by 12 weeks (J:96353)
• islets contain few insulin secretory vesicles by 12 weeks (J:96353)
• islets exhibit huntingtin inclusions in 19% of cells by 7 weeks of age, by week 12 frequency is greater than 95% (J:96353)
• islets are hypotrophic by 12 weeks, BrdU incorporation is reduced 6-fold (J:96353)
• significant reduction in insulin and somatostatin content by 12 weeks (J:96353)
• islets are smaller in size by 12 weeks (J:96353)
• islets contain few insulin secretory vesicles by 12 weeks (J:96353)
• by 12 weeks, no signs of apoptosis or necrosis are observed (J:96353)
• by 12 weeks, no signs of apoptosis or necrosis are observed (J:96353)
• islets exhibit huntingtin inclusions in 6% of cells by 12 weeks of age (J:96353)
• islets exhibit huntingtin inclusions in 6% of cells by 12 weeks of age (J:96353)
• small seminal ducts and gland size (J:36689)
• small seminal ducts and gland size (J:36689)
(J:36689)
(J:36689)
(J:36689)
(J:36689)

growth/size/body
• body weight declines after 10 weeks (J:96353)
• body weight declines after 10 weeks (J:96353)
• body weight is normal at weaning (J:36689)
• with progression of phenotype up to 30% of body weight can be lost (J:36689)
• overall loss of muscle bulk observed (J:36689)
• body weight is normal at weaning (J:36689)
• with progression of phenotype up to 30% of body weight can be lost (J:36689)
• overall loss of muscle bulk observed (J:36689)

homeostasis/metabolism
• abnormal glucose homeostasis (J:96353)
• abnormal glucose homeostasis (J:96353)
• insulin secretion in response to glucose and KCl is decreased 4-fold and 2.5-fold, respectively, by 12 weeks of age (J:96353)
• insulin secretion in response to glucose and KCl is decreased 4-fold and 2.5-fold, respectively, by 12 weeks of age (J:96353)
• identified at 11.5 weeks of age, insulin response absent (J:96353)
• identified at 11.5 weeks of age, insulin response absent (J:96353)

renal/urinary system

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory