Tbr1^em3Boro
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbr1^em3Boro
• Name: T-box brain transcription factor 1; endonuclease-mediated mutation 3, Brian Oroak
• MGI ID: MGI:7521957
• Synonyms: Tpr1^delta6aa
• Gene: Tbr1 Location: Chr2:61633274-61644458 bp, + strand Genetic Position: Chr2, 35.56 cM
• Alliance: Tbr1^em3Boro page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: Glutamic acid codon 348 through proline codon 353 in exon 4 were deleted (c.1042_1059del, p.E348_P353delEDTSQP) using an sgRNA and an ssODN template with CRISPR/cas9 technology. The mutation is in the T-box and includes five human TBR1 variants identified as pathogenic or likely pathogenic. (J:339271)

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 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)