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Allele : Tbr1<em2Boro> T-box brain transcription factor 1; endonuclease-mediated mutation 2, Brian Oroak

Primary Identifier	MGI:7521951	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Tbr1
Strain of Origin	C57BL/6NJ	Is Recombinase	false
Is Wild Type	false

molecularNote

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.

mutations:
Single point mutation

synonyms:
Tbr1<K228E>,
Tbr1<K228E>

earliestPublication:
Co M, et al. (2022) Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. J Neurosci 42(37):7166-7181

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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