About   Help   FAQ
Tg(Thy1-GLRA1*R271Q)382Wha
Transgene Detail
Nomenclature
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  
Transgene
origin
Strain of Origin:  (C57BL/6 X DBA/2)F1 x C57BL/6
Transgene
description
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a cDNA encoding a mutant human glycine receptor alpha 1 subunit in which the arginine at amino acid position 271 has been replaced by glutamine (R271Q); this mutation is associated with a dominant hereditary hyperekplexia (human startle disease).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
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Find Mice (IMSR)
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
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/07/2015
MGI 5.21
The Jackson Laboratory