|Institutional Source||Beutler Lab|
|Gene Name||core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (human)|
|Synonyms||Cbfa2t2h, MTGR1, C330013D05Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.704)|
|Stock #||R5808 (G1)|
|Chromosomal Location||154436481-154539356 bp(+) (GRCm38)|
|Type of Mutation||splice site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 154517826 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000105346 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045270] [ENSMUST00000099178] [ENSMUST00000109724] [ENSMUST00000109725]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cbfa2t2||
(F):5'- ACTCTGGGAAGAAACAGCTATTC -3'
(R):5'- AGTCTGTGAACTCCCTCCAG -3'
(F):5'- ACAGCTATTCTGAGACTCGTAGG -3'
(R):5'- GTCTGTGAACTCCCTCCAGATGAAG -3'