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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)
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:86753)
• loss of compliance (J:86753)
• elongation and tortuosity of aorta (J:86753)
• loss of compliance (J:86753)
• variable severity (J:86753)
• right-sided heart failure, putatively due to severe emphysema and related pulmonary hypertension (J:86753)
• variable severity (J:86753)
• right-sided heart failure, putatively due to severe emphysema and related pulmonary hypertension (J:86753)

craniofacial

respiratory system
• enlargement of distal airspaces observed 3 days after birth (J:86753)
• enlargement of distal airspaces observed 3 days after birth (J:86753)
• disruption of alveolar structure (J:86753)
• disruption of alveolar structure (J:86753)
• enlargement of distal airspaces observed 3 days after birth (J:86753)
• enlargement of distal airspaces observed 3 days after birth (J:86753)

integument
• skin hanging in folds (J:86753)
• skin hanging in folds (J:86753)

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
01/26/2016
MGI 6.02
The Jackson Laboratory