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Transgene Detail
Symbol: Tg(Thy1-GLRA1*R271Q)300Wha
Name: transgene insertion 300, Hans Weiher
MGI ID: MGI:5086230
Synonyms: Tg271Q, tg271Q-300, Tg(Thy1-Glra1*R271Q)300Wha
Transgene: Tg(Thy1-GLRA1*R271Q)300Wha  Location: unknown  
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)300Wha 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a cDNA encoding a mutant human glycine receptor alpha 1 subunit in which the arginine at amino acid position 271 has been replaced by glutamine (R271Q); this mutation is associated with a dominant hereditary hyperekplexia (human startle disease).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 higher than (roughly two-fold) that in mice bearing Tg(Thy1-GLRA1*R271Q)382Wha. 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:    Semidominant
View phenotypes for all genotypes (concatenated display).
Disease models
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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
This is the highest expressing of four transgenic mouse lines derived from founder mice bearing this transgene construct, which the authors designate tg271Q-300, tg271Q-331, tg271Q354 and tg271Q-382 ( J:76009).

Phenotypic Similarity to Human Syndrome: REM Sleep Behavior Disorder

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:  3 reference(s)

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MGI 6.07
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