Phenotypes Associated with This Genotype

Genotype
MGI:4880671

• Allelic Composition: Fbn1^tm1Lper/Fbn1⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

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

cardiovascular system

abnormal aorta tunica media morphology ( J:167276 )

• at 9 months, aortic media is thickened compared to in wild-type mice

• Background Sensitivity: however, mice on a C57BL/6 congenic background are asymptomatic at 3 months unlike mice on a 129/Sv congenic background

respiratory system

emphysema ( J:167276 )

• Background Sensitivity: at 3 months, expanded alveoli in mice on a C57BL/6 congenic background are milder than in mice on a 129/Sv congenic background

• at 6 months, mice exhibit severely expanded alveoli compared with wild-type mice

skeleton

abnormal skeleton morphology ( J:167276 )

• Background Sensitivity: skeletal manifestations (measured by ratio between the linear distance and the length from the first cervical vertebrae to the last thoracic vertebrae) in mice on a C57BL/6 congenic background are milder than in mice on a 129/Sv congenic background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Marfan syndrome		DOID:14323	OMIM:154700	J:167276