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Phenotypes Associated with This Genotype
Genotype
MGI:2681537
Allelic
Composition
Fbln5tm1Krc/Fbln5tm1Krc
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbln5tm1Krc 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
• loss of compliance
• variable severity
• right-sided heart failure, putatively due to severe emphysema and related pulmonary hypertension

craniofacial

respiratory system
• enlargement of distal airspaces observed 3 days after birth
• disruption of alveolar structure
• enlargement of distal airspaces observed 3 days after birth

integument
• skin hanging in folds

growth/size/body

Mouse Models of Human Disease
OMIM ID Ref(s)
Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A 219100 J:86753


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
05/24/2016
MGI 6.04
The Jackson Laboratory