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| Nomenclature |
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Symbol:
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Tg(Thy1-GLRA1*R271Q)382Wha
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Name:
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transgene insertion 382, Hans Weiher
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MGI ID: |
MGI:5306914 |
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Synonyms: |
tg271Q-382, Tg(Thy1-Glra1*R271Q)382Wha |
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Transgene:
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Tg(Thy1-GLRA1*R271Q)382Wha
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6 X DBA/2)F1 x C57BL/6
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: This transgene contains a cDNA encoding a mutant human glycine receptor alpha 1 subunit in which the arginine at amino acid position 271 has been replaced by glutamine (R271Q); this mutation is associated with a dominant hereditary hyperekplexia (human startle disease). The human cDNA has replaced, in an expression vector, a segment of the mouse thymus antigen 1 gene whose deletion limits expression to neurons. Reverse transcription-polymerase chain reaction (RT-PCR) analysis using primers that amplify both mouse and human Glra1/GLRA1 cDNA demonstrates elevated mRNA expression in the spinal cord and forebrain of transgenic versus wild-type mice. In situ hybridization analysis confirms higher expression in transgenic brains and reveals sites of ectopic expression. Expression in mice of this line is significantly lower (roughly 50%) than in mice bearing Tg(Thy1-GLRA1*R271Q)300Wha. While competition between endogenous and transgene-derived alpha 1 receptor subunits for endogenous beta subunits confounds quantitative ligand-binding analysis, presence of complete receptors at sites of ectopic GLRA1 mRNA expression in transgenic, but not wild-type, brains is shown by competitive and non-competitive ligand binding to frozen brain sections. (J:76009)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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| References |
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Original: |
J:76009
Becker L et al.,
"Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice."
J Neurosci 2002 Apr 1;22(7):2505-12
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All: |
1 reference(s)
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Analysis Tools
