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Tg(HDexon1)62Gpb
Transgene Detail
Nomenclature
Symbol: Tg(HDexon1)62Gpb
Name: transgene insertion 62, Gillian Bates
MGI ID: MGI:2386951
Synonyms: R6/2, R6/2B, Tg(HDexon1)62nGpb
Transgene: Tg(HDexon1)62Gpb  Location: unknown  Genetic Position: Chr4, Syntenic
Transgene
origin
Strain of Origin:  CBA x C57BL/6
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Mutation details
Phenotypes
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Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Notes
Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD. Onset of phenotype is apparent from approximately 8 weeks of age based on home cage behavior. Some functional tests indicate the presence of a motor impairment from 5-6 weeks and cognitive impairment from 3 weeks. Epileptic seizures are seen in a small percentage of transgenic mice. A failure to gain weight is more pronounced in males than females. Immunohistochemistry with antibodies raised against the N-terminus of huntingtin reveals aggregates in the form of intranuclear inclusions and neuropil aggregates.

Transgenic mice on a background that involves C57BL/6 and CBA display a progressive neurological phenotype that mimics many of the features of Huntington Disease in humans, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. Frequent urination, loss of body weight and muscle bulk occurs through the course of the disease. Neurological developments include Neuronal Intranuclear Inclusions (NII), which contain both the huntingtin and ubiquitin proteins (NII have subsequently been identified in human HD patients); the onset of HD symptoms occurs between 9 and 11 weeks.

References
Original:  J:36689 Mangiarini L, et al., Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell. 1996 Nov 1;87(3):493-506
All:  257 reference(s)

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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory