Tbr1^em2Boro
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbr1^em2Boro
• Name: T-box brain transcription factor 1; endonuclease-mediated mutation 2, Brian Oroak
• MGI ID: MGI:7521951
• Synonyms: Tbr1^K228E
• Gene: Tbr1 Location: Chr2:61633274-61644458 bp, + strand Genetic Position: Chr2, 35.56 cM
• Alliance: Tbr1^em2Boro page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Lysine codon 228 (AAA) in exon 1 was changed to glutamic acid (GAA) (c.682A>G p.K228E) using an sgRNA and an ssODN template with CRISPR/cas9 technology. p.K228E was identified in a patient with autism. (J:339271)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tbr1 Mutation: 38 strains or lines available

References

• Original: J:339271 Co M, et al., Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. J Neurosci. 2022 Sep 14;42(37):7166-7181
• All: 1 reference(s)