Phenotypes Associated with This Genotype

Genotype
MGI:5543898

• Allelic Composition: Tgfbr1^tm1.1Hcd/Tgfbr1⁺
• Genetic Background: 129S6(Cg)-Tgfbr1^tm1.1Hcd

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

cardiovascular system

abnormal aorta elastic fiber morphology ( J:204960 )

• elastic fiber fragmentation is observed in aortic roots by 24 weeks of age

increased aorta wall thickness ( J:204960 )

• progressive thickening of aortic wall with excessive collagen deposition

abnormal aortic arch morphology ( J:204960 )

• elongation and tortuosity is found in the aortic arch and coronary arteries

abnormal aorta bulb morphology ( J:204960 )

• progressive enlargement of aortic root diameter beginning at 4 weeks of age

dilated aorta bulb ( J:204960 )

• aortic root aneurysm

ascending aorta aneurysm ( J:204960 )

• aortic root aneurysm

aortic dissection ( J:204960 )

abnormal coronary artery morphology ( J:204960 )

• elongation and tortuosity is found in the aortic arch and coronary arteries

hemopericardium ( J:204960 )

• hemothorax or hemopericardium is observable in approximately 60% of deaths

hemothorax ( J:204960 )

• hemothorax or hemopericardium is observable in approximately 60% of deaths

mortality/aging

premature death ( J:204960 )

• 85% survival by 180 days

skeleton

kyphosis ( J:204960 )

• kyphosis is observed in 24 week old mice

premature cranial suture closure ( J:204960 )

• craniosynostosis

premature coronal suture closure ( J:204960 )

• patchy closure of coronal sutures

premature lambdoid suture closure ( J:204960 )

• patchy closure of lambdoid sutures

homeostasis/metabolism

hemopericardium ( J:204960 )

• hemothorax or hemopericardium is observable in approximately 60% of deaths

respiratory system

hemothorax ( J:204960 )

• hemothorax or hemopericardium is observable in approximately 60% of deaths

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Loeys-Dietz syndrome		DOID:0050466		J:204960