Mouse Genome Informatics
hm
    Fbln5tm1Eno/Fbln5tm1Eno
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• elongation and tortuosity of aorta
• developmental defect associated with the organization of elastin fibers
• elongated aorta results in the juxtaposition of brachiocephalic trunk and the left common carotid artery
• elongation of the ascending aorta, resulting in the juxtaposition of brachiocephalic trunk and the left common carotid artery
• 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
• lungs were observed to be expanded upon dissection
• dilated alveoli, most severe in the peripheral regions of the lung
• emphysematous change with the formation of peripheral bullae
• progressive enlargement of distal airspaces first evident at 2 weeks of age

integument
• coinciding with increased looseness of skin around 50 days of age and becoming more pronounced with age
• progressive looseness first noticeable by weaning
• excess folds of abdominal skin evident at 50 days of age

Mouse Models of Human Disease
OMIM IDRef(s)
Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A 219100 J:86754