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Phenotypes Associated with This Genotype
Genotype
MGI:2681526
Allelic
Composition
Fbln5tm1Eno/Fbln5tm1Eno
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• elongation and tortuosity of aorta (J:86754)
• elongation and tortuosity of aorta (J:86754)
• developmental defect associated with the organization of elastin fibers (J:86754)
• developmental defect associated with the organization of elastin fibers (J:86754)
• elongated aorta results in the juxtaposition of brachiocephalic trunk and the left common carotid artery (J:86754)
• elongated aorta results in the juxtaposition of brachiocephalic trunk and the left common carotid artery (J:86754)
• elongation of the ascending aorta, resulting in the juxtaposition of brachiocephalic trunk and the left common carotid artery (J:86754)
• elongation of the ascending aorta, resulting in the juxtaposition of brachiocephalic trunk and the left common carotid artery (J:86754)
• significant increase in systolic blood pressure at the aortic arch (J:86754)
• mean blood pressure and diastolic blood pressure did not differ from those of wild-type (J:86754)
• significant increase in systolic blood pressure at the aortic arch (J:86754)
• mean blood pressure and diastolic blood pressure did not differ from those of wild-type (J:86754)

respiratory system
• lungs were observed to be expanded upon dissection (J:86754)
• lungs were observed to be expanded upon dissection (J:86754)
• dilated alveoli, most severe in the peripheral regions of the lung (J:86754)
• dilated alveoli, most severe in the peripheral regions of the lung (J:86754)
• emphysematous change with the formation of peripheral bullae (J:86754)
• emphysematous change with the formation of peripheral bullae (J:86754)
• progressive enlargement of distal airspaces first evident at 2 weeks of age (J:86754)
• progressive enlargement of distal airspaces first evident at 2 weeks of age (J:86754)

integument
• coinciding with increased looseness of skin around 50 days of age and becoming more pronounced with age (J:86754)
• coinciding with increased looseness of skin around 50 days of age and becoming more pronounced with age (J:86754)
• progressive looseness first noticeable by weaning (J:86754)
• excess folds of abdominal skin evident at 50 days of age (J:86754)
• progressive looseness first noticeable by weaning (J:86754)
• excess folds of abdominal skin evident at 50 days of age (J:86754)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory