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Gnao1tm2.1Rneu
Targeted Allele Detail
Nomenclature
Symbol: Gnao1tm2.1Rneu
Name: guanine nucleotide binding protein, alpha O; targeted mutation 2.1, Richard R Neubig
MGI ID: MGI:5620501
Gene: Gnao1  Location: Chr8:93810561-93969388 bp, + strand  Genetic Position: Chr8, 45.94 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:216850
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 5 was replaced with a modified exon 5 that contains nculeotide substitutions (GGC to AGT) that results in the amino acid substitution of serine for glycine at position 184 (G184S). This mutation blocks RGS binding. The floxed neo cassette inserted between the modified exon 5 and exon 6 was removed. (J:216850)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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 Gnao1 Mutation:  4 strains or lines available
References
Original:  J:216850 Kehrl JM, et al., Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?. Mamm Genome. 2014 Jun;25(5-6):202-10
All:  1 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
06/18/2019
MGI 6.14
The Jackson Laboratory