Mouse Genome Informatics
cn1
    Chd7Gt(XK403)Byg/Chd7+
Tg(Tbx1-cre)1Joe/0

either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system

craniofacial

embryogenesis


Mouse Genome Informatics
cn2
    Fgf8tm1.3Mrt/Fgf8tm1.4Mrt
Tg(Tbx1-cre)1Joe/0

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most mice die between E18.5 and P1

cardiovascular system
N
• some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed (J:88814)
• exhibit variable cardiovascular patterning defects listed below
• duplication of the internal carotid arteries
• impaired differentiation in the great vessels
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle
• Tetrology of Fallot
• atrial septal defects
• ventricular septal defects

immune system
• some exhibit a single lobed thymus

muscle
• impaired differentiation in the great vessels
• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

hematopoietic system
• some exhibit a single lobed thymus

Mouse Models of Human Disease
OMIM IDRef(s)
DiGeorge Syndrome; DGS 188400 J:88814