|Institutional Source||Beutler Lab|
|Gene Name||oligodendrocyte transcription factor 2|
|Synonyms||Bhlhb1, bHLHe19, RK17, Olg-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7738 (G1)|
|Chromosomal Location||91225457-91228677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91227160 bp|
|Amino Acid Change||Isoleucine to Threonine at position 254 (I254T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035608]|
AA Change: I254T
AA Change: I254T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality, impaired development of motoneurons and oligodendrocytes, aphagia, hypotonia, and abnormal posture and breathing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Olig2||
(F):5'- GACTGGTGAGCGAGATCTAC -3'
(R):5'- AGCTCCCCTTCTTGCAACAG -3'
(F):5'- AGATCTACGGGGGTCACCAC -3'
(R):5'- TTCTTGCAACAGAGCCCCG -3'