Phenotypes Associated with This Genotype

Genotype
MGI:3800675

• Allelic Composition: Fbn1^Tsk/Fbn1⁺; Il4ra^tm1Sz/Il4ra^tm1Sz
• Genetic Background: involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

respiratory system

overexpanded pulmonary alveolus ( J:68448 )

• enlarged alveoli and a histologic picture of emphysema are found, similar to that seen in tight skin heterozygotes with normal IL4RA expression

immune system

immune system phenotype ( J:68448 )

N • unlike tight skin mice, these compound mutants do not develop autoantibodies against the scleroderma antigens topoisomerase I and fibrillin 1

integument

integument phenotype ( J:68448 )

N • the cutaneous hyperplasia found in tight skin heterozygotes is diminished in these compound mutants and the thickness of the skin is normal

abnormal cutaneous collagen fibril morphology ( J:68448 )

• electron micrographs of skin show a predominance of abnormally small diameter collagen fibers, although there is reduced fibrotic development compared with tight skin mice with wildtype expression of IL4RA

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary emphysema		DOID:9675	OMIM:130700	J:68448