Gnao1^tm2.1Rneu
Targeted Allele Detail

Summary

• Symbol: Gnao1^tm2.1Rneu
• Name: guanine nucleotide binding protein, alpha O; targeted mutation 2.1, Richard R Neubig
• MGI ID: MGI:5620501
• Gene: Gnao1 Location: Chr8:94537213-94696016 bp, + strand Genetic Position: Chr8, 45.94 cM
• Alliance: Gnao1^tm2.1Rneu page

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 details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Gnao1 Mutation: 29 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)