Gene Symbol: Gnb1l
Description: guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Alias: ESTM55, Gm16314, Me49f07, Wdr14, Wdvcf, guanine nucleotide-binding protein subunit beta-like protein 1, WD repeat-containing protein 14, WD40 repeat-containing protein deleted in VCFS, g protein subunit beta-like protein 1
Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, et al
. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006;103:7729-34 pubmed
..We show that PPI deficits in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l. Mutation of either gene is sufficient to cause reduced PPI...
Merscher S, Funke B, Epstein J, Heyer J, Puech A, Lu M, et al
. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001;104:619-29 pubmed
..Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS. ..
Gong L, Liu M, Jen J, Yeh E. GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. Biochim Biophys Acta. 2000;1494:185-8 pubmed
..The cloned GNB1L cDNA encodes a G-protein beta-subunit-like polypeptide, and the GNB1L gene is located in the critical region for ..
Funke B, Pandita R, Morrow B. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11. Genomics. 2001;73:264-71 pubmed
..We termed this gene WDR14 (WD40 repeat-containing gene deleted in VCFS)...
Funke B, Epstein J, Kochilas L, Lu M, Pandita R, Liao J, et al
. Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet. 2001;10:2549-56 pubmed
..chromosome (BAC) transgenic mice overexpressing four transgenes, PNUTL1, (CDCrel-1), GP1B beta, TBX1 and WDR14, had reduced viability, cardiovascular malformations and thymus gland hypoplasia...
Maynard T, Meechan D, Dudevoir M, Gopalakrishna D, Peters A, Heindel C, et al
. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol Cell Neurosci. 2008;39:439-51 pubmed publisher
..Our results suggest that altered dosage of one, or several 22q11 mitochondrial genes, particularly during early post-natal cortical development, may disrupt neuronal metabolism or synaptic signaling. ..
Kvajo M, McKellar H, Gogos J. Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012;211:136-64 pubmed publisher
..Finally, we discuss emerging mouse models, such as second-generation pathophysiology models based on innovative approaches that are facilitated by the information gathered from the current genetic mouse models. ..
Voss A, Vanyai H, Collin C, Dixon M, McLennan T, Sheikh B, et al
. MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell. 2012;23:652-63 pubmed publisher
..Our data reveal a molecular mechanism for a specific chromatin modification of the Tbx1 locus intersecting with an environmental determinant, modeling variability in DiGeorge syndrome. ..