Mouse Genome Informatics
cx
    Fbn1Tsk/Fbn1+
Tgfb1tm1N/Tgfb1+

involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
respiratory system
• enlarged alveoli and a histologic picture of emphysema are found, similar to that seen in tight skin heterozygotes with normal TGFB1 expression

immune system
N
• unlike tight skin mice, these compound mutants do not develop autoantibodies against the scleroderma antigens topoisomerase I and fibrillin 1 (J:68448)

integument
• 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
OMIM IDRef(s)
Emphysema, Hereditary Pulmonary 130700 J:68448