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Phenotypes Associated with This Genotype
Genotype
MGI:3623411
Allelic
Composition
Tgfbr2tm1Karl/Tgfbr2tm1Karl
H2afvTg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afvTg(Wnt1-cre)11Rth mutation (2 available); any H2afv mutation (20 available)
Tgfbr2tm1Karl mutation (1 available); any Tgfbr2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• malformations of cranial bones at E18

cardiovascular system
• abnormal branching of the left carotid artery from the brachiocephalic trunk in mutant mice
• venous congestion
• defective separation of the aorta from the pulmonary trunk, leading to persistent truncus arteriosis
• exhibit vasodilatation of the jugular veins
• heart defects lead to functional right-sided heart failure with venous congestion, resulting in a vasodilatation of the jugular veins

endocrine/exocrine glands
• 2 of 5 do not have parathyroid glands
• 3 of 5 exhibit hypoplastic parathyroid glands at E18
• thymus gland is 58% the size of wild-type at E18

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

nervous system
• 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
• midbrain abnormalities
• hindbrain abnormalities

skeleton
• malformations of cranial bones at E18
• malformation of cartilage at E18

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

digestive/alimentary system

embryo
• 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
• exhibit vasodilatation of the jugular veins

growth/size/body

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


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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory