Phenotypes Associated with This Genotype

Genotype
MGI:3800678

• Allelic Composition: Fbn1^Tsk/Fbn1⁺; Tgfb1^tm1N/Tgfb1⁺
• Genetic Background: involves: 129S/SvEv * 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 TGFB1 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

abnormal cutaneous collagen fibril morphology ( J:68448 )

• electron micrographs of skin show a predominance of abnormally small diameter collagen fibers, the skin is slightly thicker than normal but not as thick as in tight skin mutants with normal TGFB1 expression, and the fat tissue and hair follicles are preserved

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