All Phenotypes Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem MGI Mouse

neonatal lethality, complete penetrance ( J:67796 )

abnormal aortic arch morphology ( J:67796 )

• aortic arch defects are related to inappropriate persistence or regression of aortic arch arteries 3, 4, and 6

retroesophageal right subclavian artery ( J:67796 )

• seen in 5 of 26 embryos

interrupted aortic arch, type b ( J:67796 )

• one newborn displays an interrupted aortic arch, type B

right aortic arch ( J:67796 )

• 5 of 26 embryos have a persistent right-sided aortic arch; in these embryos, the left carotid artery is the first major branch of the ascending aorta instead of the innominate artery

patent ductus arteriosus ( J:67796 )

• seen in cases of pulmonary valve atresia (3 of 26 embryos)

abnormal cardiac outflow tract development ( J:67796 )

• an E18.5 mutant has a complex outflow tract malformation

abnormal heart development ( J:67796 )

• 54% of embryos have vascular defects involving the aortic arch and/or great vessels

ventricular septal defect ( J:67796 )

• a ventricular septal defect is present in mutants with pulmonary atresia

pulmonary valve atresia ( J:67796 )

• 3 of 26 embryos have pulmonary valve atresia, in which the pulmonary vasculature fills retrograde via the patent ductus arteriosus

abnormal thymus development ( J:67796 )

• mutants exhibit incomplete migration of the thymus tissue from the pharynx into the mediastinum

abnormal thymus lobule morphology ( J:67796 )

• the two mediastinal lobes of the thymus are smaller in size and the superior borders extend as long slender strands into the neck 7-9 mm above the clavicles

• occasionally, small ectopic lobules at the cranial ends of the strands are seen

thymus hypoplasia ( J:67796 )

decreased thymocyte number ( J:67796 )

• all thymocyte subpopulations, CD4+, CD8+, CD3+ and CD4-/CD8-, are present in normal ratios but are reduced in number

abnormal thymus development ( J:67796 )

• mutants exhibit incomplete migration of the thymus tissue from the pharynx into the mediastinum

abnormal thymus lobule morphology ( J:67796 )

• the two mediastinal lobes of the thymus are smaller in size and the superior borders extend as long slender strands into the neck 7-9 mm above the clavicles

• occasionally, small ectopic lobules at the cranial ends of the strands are seen

thymus hypoplasia ( J:67796 )

decreased thymocyte number ( J:67796 )

• all thymocyte subpopulations, CD4+, CD8+, CD3+ and CD4-/CD8-, are present in normal ratios but are reduced in number

abnormal thymus development ( J:67796 )

• mutants exhibit incomplete migration of the thymus tissue from the pharynx into the mediastinum

abnormal thymus lobule morphology ( J:67796 )

• the two mediastinal lobes of the thymus are smaller in size and the superior borders extend as long slender strands into the neck 7-9 mm above the clavicles

• occasionally, small ectopic lobules at the cranial ends of the strands are seen

thymus hypoplasia ( J:67796 )

decreased thymocyte number ( J:67796 )

• all thymocyte subpopulations, CD4+, CD8+, CD3+ and CD4-/CD8-, are present in normal ratios but are reduced in number

patent ductus arteriosus ( J:67796 )

• seen in cases of pulmonary valve atresia (3 of 26 embryos)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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