Allele/Variant

Gnb1em1Dgold

Species
Mus musculus
Symbol
Gnb1em1Dgold
Category
allele
Allele of gene
Gnb1
Transgenic Constructs
None
Synonyms
  • Gnb1K78R
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
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