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Transgene Detail
Symbol: Tg(Thy1-GLRA1*R271Q)382Wha
Name: transgene insertion 382, Hans Weiher
MGI ID: MGI:5306914
Synonyms: tg271Q-382, Tg(Thy1-Glra1*R271Q)382Wha
Transgene: Tg(Thy1-GLRA1*R271Q)382Wha  Location: unknown  
Alliance: Tg(Thy1-GLRA1*R271Q)382Wha page
Strain of Origin:  (C57BL/6 X DBA/2)F1 x C57BL/6
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(Thy1-GLRA1*R271Q)382Wha expresses 1 gene
Mutation detailsThis 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a cDNA encoding a mutant human glycine receptor alpha 1 subunit in which the arginine at amino acid position 271 has been replaced by glutamine (R271Q); this mutation is associated with a dominant hereditary hyperekplexia (human startle disease).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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
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
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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MGI 6.22
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