Ube3a^em1Mjz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ube3a^em1Mjz
• Name: ubiquitin protein ligase E3A; endonuclease-mediated mutation 1, Mark Zylka
• MGI ID: MGI:7520304
• Synonyms: Ube3a^T503A
• Gene: Ube3a Location: Chr7:58878498-58961284 bp, + strand Genetic Position: Chr7, 33.95 cM
• Alliance: Ube3a^em1Mjz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Threonine codon 503 (ACT) in exon 6 was changed to alanine (GCA) (NP_001380595.1:p.T503A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human NP_570853.1:p.T485A gain-of-function mutation associated with autism when expressed from the paternal allele. (J:338299)

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 Ube3a Mutation: 68 strains or lines available

References

• Original: J:338299 Xing L, et al., Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice. Cell Rep. 2023 Jun 28;42(7):112706
• All: 1 reference(s)