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Gnb1em1Dgold
Endonuclease-mediated Allele Detail
Summary
Symbol: Gnb1em1Dgold
Name: guanine nucleotide binding protein (G protein), beta 1; endonuclease-mediated mutation 1, David B Goldstein
MGI ID: MGI:7620469
Synonyms: Gnb1K78R
Gene: Gnb1  Location: Chr4:155575818-155643726 bp, + strand  Genetic Position: Chr4, 86.17 cM
Alliance: Gnb1em1Dgold page
Mutation
origin
Strain of Origin:  C57BL/6NCrl
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsLysine 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  61 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)

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
10/22/2024
MGI 6.24
The Jackson Laboratory