Gnb1^em1Dgold
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gnb1^em1Dgold
• Name: guanine nucleotide binding protein (G protein), beta 1; endonuclease-mediated mutation 1, David B Goldstein
• MGI ID: MGI:7620469
• Synonyms: Gnb1^K78R
• Gene: Gnb1 Location: Chr4:155575818-155643726 bp, + strand Genetic Position: Chr4, 86.17 cM
• Alliance: Gnb1^em1Dgold page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Lysine codon 78 (AAA) in exon 6 was changed to arginine (AGA) (NM_008142:c.233A>G:p.K78R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with neurodevelopmental disorder with global developmental delay and epilepsy (autosomal dominant intellectual developmental disorder 42). Protein expression from this allele is similar to wildtype. (J:346983)
• Inheritance: Dominant

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 Gnb1 Mutation: 62 strains or lines available

References

• Original: J:346983 Colombo S, et al., Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor. Front Cell Neurosci. 2023;17:1175895
• All: 1 reference(s)