| Primary Identifier | MGI:5086230 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(Thy1-GLRA1*R271Q)300Wha |
| Inheritance Mode | Semidominant | Strain of Origin | (C57BL/6 X DBA/2)F1 x C57BL/6 |
| Is Recombinase | false | Is Wild Type | false |
| description | 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). |
| molecularNote | 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a cDNA encoding a mutant human glycine receptor alpha 1 subunit in which the arginine at amino acid position 271 has been replaced by glutamine (R271Q); this mutation is associated with a dominant hereditary hyperekplexia (human startle disease).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 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. |
