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Phenotypes Associated with This Genotype
Genotype
MGI:3800675
Allelic
Composition
Fbn1Tsk/Fbn1+
Il4ratm1Sz/Il4ratm1Sz
Genetic
Background
involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1Tsk mutation (2 available); any Fbn1 mutation (69 available)
Il4ratm1Sz mutation (1 available); any Il4ra mutation (15 available)
phenotype observed in females
phenotype observed in males
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

integument
N
• the cutaneous hyperplasia found in tight skin heterozygotes is diminished in these compound mutants and the thickness of the skin is normal
• 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 ID Ref(s)
Emphysema, Hereditary Pulmonary 130700 J:68448


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
07/12/2016
MGI 6.04
The Jackson Laboratory