| null mutant mice have conotruncal defect and a phenotype reminiscent of the Di George syndrome. required for normal heart development of the pharyngeal arch arteries in a gene dosage-dependent manner, in mice | |
diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome (Meechan 2009) |
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impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice |
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DiGeorge syndrome-like anomalies are present in mice with homozygous mutation of Moz and in heterozygous Moz mutants when combined with Tbx1 haploinsufficiency or oversupply of retinoic acid |
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constitutive Tbx1-deficient mice show hearing impairments and velopharyngeal dysfunction, and selectively showed lower levels of vocal sounds in complex vocal patterns only |
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in Tbx1-deficient mice, the spheno-occipital synchondrosis was completely mineralized at birth |
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Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome |