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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)
Mouse lines carrying:
Fbln5tm1Eno mutation (0 available); any Fbln5 mutation (7 available)
phenotype observed in females
phenotype observed in males
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 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
04/19/2016
MGI 6.03
The Jackson Laboratory