|Institutional Source||Beutler Lab|
|Gene Name||T-box brain gene 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R5054 (G1)|
|Chromosomal Location||61802930-61814114 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 61806002 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Phenylalanine at position 241 (I241F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046787 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048934] [ENSMUST00000102737]|
AA Change: I241F
PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I241F
|Meta Mutation Damage Score||0.3168|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted null allele fail to feed and die on the second postnatal day displaying disrupted forebrain morphology and a hypoplastic olfactory bulb that lacks normal mitral and tufted cells and shows a striking reduction in mature olfactory bulb projection neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbr1||
(F):5'- CCTAGATCAGCAGACATTTCGTTC -3'
(R):5'- TAGGAAGTCATTGGCCGACC -3'
(F):5'- GACATTTCGTTCAGACACGCG -3'
(R):5'- GGCCGACCGTTTTTAAAAAGTCG -3'