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Gabbr2tm1.1Stmo
Targeted Allele Detail
Summary
Symbol: Gabbr2tm1.1Stmo
Name: gamma-aminobutyric acid type B receptor subunit 2; targeted mutation 1.1, Stephen J Moss
MGI ID: MGI:5568072
Synonyms: S783A
Gene: Gabbr2  Location: Chr4:46662318-46991714 bp, - strand  Genetic Position: Chr4, 25.18 cM
Alliance: Gabbr2tm1.1Stmo page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:205570
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Constitutively active)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA serine to alanine at amino acid 783 mutation was inserted into exon 16 and a floxed neo cassette was inserted in intron 16 via homologous recombination. Cre mediated recombination removed the neo cassette. The mutation in exon 16 eliminates a phosphorylation site. Absence of phosphorylation was confirmed by western blot analysis. Total GABBR2 protein expression was significantly increased in homozygous mice. (J:205570)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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
Carrying any Gabbr2 Mutation:  62 strains or lines available
References
Original:  J:205570 Terunuma M, et al., Postsynaptic GABAB Receptor Activity Regulates Excitatory Neuronal Architecture and Spatial Memory. J Neurosci. 2014 Jan 15;34(3):804-16
All:  2 reference(s)

Contributing Projects:
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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory