Phenotypes Associated with This Genotype

Genotype
MGI:3623411

• Allelic Composition: Tgfbr2^tm1Karl/Tgfbr2^tm1Karl; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

mortality/aging

perinatal lethality ( J:96359 )

craniofacial

abnormal craniofacial bone morphology ( J:96359 )

• malformations of cranial bones at E18

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

cardiovascular system

abnormal aortic arch and aortic arch branch attachment ( J:96359 )

• abnormal branching of the left carotid artery from the brachiocephalic trunk in mutant mice

blood vessel congestion ( J:96359 )

• venous congestion

persistent truncus arteriosus ( J:96359 )

• defective separation of the aorta from the pulmonary trunk, leading to persistent truncus arteriosis

ventricular septal defect ( J:96359 )

abnormal blood vessel physiology ( J:96359 )

abnormal vasodilation ( J:96359 )

• exhibit vasodilatation of the jugular veins

congestive heart failure ( J:96359 )

• heart defects lead to functional right-sided heart failure with venous congestion, resulting in a vasodilatation of the jugular veins

endocrine/exocrine glands

abnormal parathyroid gland morphology ( J:96359 )

absent parathyroid glands ( J:96359 )

• 2 of 5 do not have parathyroid glands

parathyroid hypoplasia ( J:96359 )

• 3 of 5 exhibit hypoplastic parathyroid glands at E18

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

immune system

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

nervous system

abnormal neural crest cell morphology ( J:96359 )

• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells

• absence of neural crest-derived smooth muscle cells

abnormal midbrain morphology ( J:96359 )

• midbrain abnormalities

abnormal hindbrain morphology ( J:96359 )

• hindbrain abnormalities

skeleton

abnormal craniofacial bone morphology ( J:96359 )

• malformations of cranial bones at E18

abnormal cartilage morphology ( J:96359 )

• malformation of cartilage at E18

hematopoietic system

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

digestive/alimentary system

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

embryo

abnormal neural crest cell morphology ( J:96359 )

• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells

• absence of neural crest-derived smooth muscle cells

muscle

abnormal vasodilation ( J:96359 )

• exhibit vasodilatation of the jugular veins

growth/size/body

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:96359