Phenotypes Associated with This Genotype

Genotype
MGI:5444488

• Allelic Composition: Fbn1^tm1Hcd/Fbn1⁺; Tgfb2^tm1Doe/Tgfb2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

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

cardiovascular system

abnormal aorta wall morphology ( J:188799 )

• elastic fiber fragmentation and greater collagen deposition within the medial compartment of the aortic wall is increased compared to either single heterozygote

dilated aorta bulb ( J:188799 )

• mutants show an increase in aortic root dimension at 2 and 4 months of age compared to either single heterozygote

• aortic dilatation is specific to the aortic root

aortic aneurysm ( J:188799 )

• aortic root aneurysm

growth/size/body

growth/size/body region phenotype ( J:188799 )

N • mutants exhibit normal body size and growth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Loeys-Dietz syndrome		DOID:0050466		J:188799