Tg(HD)63Aron
Transgene Detail

Summary

• Symbol: Tg(HD)63Aron
• Name: transgene insertion 63, Neil Aronin
• MGI ID: MGI:3057174
• Synonyms: HD100L63, Tg100, TgCAG100
• Transgene: Tg(HD)63Aron Location: unknown
• Alliance: Tg(HD)63Aron page

Transgene origin

• Strain of Origin: (C57BL/6 x SJL)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(HD)63Aron expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  HTT (3064)

  Htt	(MGI:96067)

• Mutation details: The transgene contains bases 316-3210 of the human huntingtin cDNA sequence with a 100 CAG repeat insertion, under the control of the rat neuron-specific enolase promoter and an SV40 polyadenylation signal. Northern blot, RT-PCR, and Western blot analyses detected expression in neural cells. (J:72772)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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tg1  Disease Model	Tg(HD)63Aron/?	involves: C57BL/6 * SJL

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
behavior/neurological	√
limb grasping	√
impaired coordination	√
abnormal locomotor activation	√
abnormal gait	√
nervous system	√
abnormal striatum morphology	√
abnormal cerebral cortex morphology	√
abnormal neuron morphology	√
abnormal medium spiny neuron morphology	√
abnormal dendrite morphology	√
neuronal intranuclear inclusions	√
abnormal excitatory postsynaptic potential	√
enhanced NMDA-mediated synaptic currents	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
Huntington's disease IDs Huntington's disease       DOID:12858 ICD10CM:G10 ICD9CM_2006:333.4 ICD9CM:333.4 KEGG:05016 MESH:D006816 NCI:C82342 OMIM:143100 UMLS_CUI:C0020179 Close	√

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

Notes

Transgenic mice express the initial N-terminal third of the mutant human huntingtin gene (IT15) under the direction of the rat neuron-specific enolase promoter. The phenotype of hemizygous transgenic mice mimicks much of the morphological and subcellular neuropathology that occurs in the striatum and cortex in the human Huntington disease. Onset and intensity of behavioral abnormalities are variable and begin between 3 to 6 months of age.

Transgenic mice exhibit increased levels of nuclear and cytoplasmic huntingtin and dysmorphic dendrites in the striatum and cortex. Electron microscopic analysis of nuclear inclusions of cortical and striatal neurons detects granular and filamentous structures that appear to be similar to structures seen in human brain affected by Huntington's disease. Cortical stimulation and N-methyl-D-aspartate (NMDA) receptor activation produce abnormal electrophysiological responses from striatal neurons of transgenic mice.

References

• Original: J:72772 Laforet GA, et al., Changes in cortical and striatal neurons predict behavioral and electrophysiological abnormalities in a transgenic murine model of Huntington's disease. J Neurosci. 2001 Dec 1;21(23):9112-23
• All: 3 reference(s)