Tg(HDexon1)61Gpb
Transgene Detail

Summary

• Symbol: Tg(HDexon1)61Gpb
• Name: transgene insertion 61, Gillian Bates
• MGI ID: MGI:2389466
• Synonyms: HD R6/1, htt^m, R6/1
• Transgene: Tg(HDexon1)61Gpb Location: unknown
• Alliance: Tg(HDexon1)61Gpb page

Transgene origin

• Strain of Origin: CBA x C57BL/6

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(HDexon1)61Gpb expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  HTT (3064)

  Htt	(MGI:96067)

• Mutation details: A human HD fragment containing a polyglutamine-repeat expansion was isolated from a clone derived from a patient with Huntington's disease. The transgene contained approximately 1 kb of 5' UTR region, exon 1 which initially contained 113 CAG repeats, and 262 bp of intron 1 followed by a neomycin cassette. Subsequent analysis showed that the number of CAG repeats was prone to increase due to instability in the germline, and a range of 109.5 to 121 was observed. (J:36689)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available

Notes

The transgene is ubiquitously expressed.

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 and 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). Onset of HD symptoms occurs between 15 and 21 weeks of age.

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: 157 reference(s)