Mouse Genome Informatics
cx
    Fbn1Tsk/Fbn1+
Il4ratm1Sz/Il4ratm1Sz

involves: BALB/cJ * 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 IL4RA 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
N
• the cutaneous hyperplasia found in tight skin heterozygotes is diminished in these compound mutants and the thickness of the skin is normal (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
OMIM IDRef(s)
Emphysema, Hereditary Pulmonary 130700 J:68448