Tbr1^tm1.1Csbd
Targeted Allele Detail

Summary

• Symbol: Tbr1^tm1.1Csbd
• Name: T-box brain transcription factor 1; targeted mutation 1.1, Eunjoon Kim
• MGI ID: MGI:6388548
• Synonyms: Tbr1^K228E
• Gene: Tbr1 Location: Chr2:61633274-61644458 bp, + strand Genetic Position: Chr2, 35.56 cM
• Alliance: Tbr1^tm1.1Csbd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:281878
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Exon 1 was replaced with exon 1 containing a lysine to glutamate substitution at amino acid 228 (K228E) and a loxP-flanked neomycin selection cassette. Cre-mediated recombination removed the selection cassette. This mutation was identified in a male with autism spectrum disorder. Whole-brain levels of TBR1 protein are increased about 2-fold and 6-fold in heterozygotes and homozygotes, respectively. (J:281878)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

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:281878 Yook C, et al., A TBR1-K228E Mutation Induces Tbr1 Upregulation, Altered Cortical Distribution of Interneurons, Increased Inhibitory Synaptic Transmission, and Autistic-Like Behavioral Deficits in Mice. Front Mol Neurosci. 2019;12:241
• All: 1 reference(s)