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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
