Got2^em2Pcamp

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Species

Mus musculus

Symbol

Got2^em2Pcamp

Category

allele

Allele of gene

Got2

Transgenic Constructs

None

Synonyms

• Got2^emhR337G

Description

Exon 8 was targeted with an sgRNA (targeting TCCTGACTTCTCCAGACTTG) and an ssODN template (CCGTCCCCTGTATTCCAACCCACCTCTCAATGGGGCCCGGATCGCAGCAACCATTCTGACGTCTCCGGATTTAGGTAAGCAATGGTAACGATTACTAGCTGTTCCGTGCTACAGCTCCATGAATGGAAAAG) using CRISPR/Cas9 technology to change arginine codon 337 (CGG) to glycine (GGT) (p.R337G, c.1009_1011CGG>GGT). The equivalent human mutation (p.Arg337Gly c.1009C>G) is found in some Malate-Aspartate Shuttle (MAS)-Related Encephalopathy patients.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations