Phenotypes Associated with This Genotype

Genotype
MGI:2681526

• Allelic Composition: Fbln5^tm1Eno/Fbln5^tm1Eno
• Genetic Background: involves: 129S6/SvEvTac

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

cardiovascular system

abnormal aorta morphology ( J:86754 )

• elongation and tortuosity of aorta

abnormal aorta elastic fiber morphology ( J:86754 )

• developmental defect associated with the organization of elastin fibers

abnormal aortic arch and aortic arch branch attachment ( J:86754 )

• elongated aorta results in the juxtaposition of brachiocephalic trunk and the left common carotid artery

abnormal ascending aorta morphology ( J:86754 )

• elongation of the ascending aorta, resulting in the juxtaposition of brachiocephalic trunk and the left common carotid artery

abnormal pulmonary circulation ( J:86754 )

abnormal systemic arterial blood pressure ( J:86754 )

• significant increase in systolic blood pressure at the aortic arch

• mean blood pressure and diastolic blood pressure did not differ from those of wild-type

respiratory system

abnormal pulmonary circulation ( J:86754 )

abnormal lung morphology ( J:86754 )

• lungs were observed to be expanded upon dissection

abnormal pulmonary alveolus morphology ( J:86754 )

• dilated alveoli, most severe in the peripheral regions of the lung

emphysema ( J:86754 )

• emphysematous change with the formation of peripheral bullae

abnormal terminal bronchiole morphology ( J:86754 )

• progressive enlargement of distal airspaces first evident at 2 weeks of age

integument

rough coat ( J:86754 )

• coinciding with increased looseness of skin around 50 days of age and becoming more pronounced with age

loose skin ( J:86754 )

• progressive looseness first noticeable by weaning

• excess folds of abdominal skin evident at 50 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutis laxa		DOID:3144	OMIM:PS123700	J:86754