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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 (6 available)
Il4ratm1Sz mutation (1 available); any Il4ra mutation (7 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 (J:68448)
• enlarged alveoli and a histologic picture of emphysema are found, similar to that seen in tight skin heterozygotes with normal IL4RA expression (J:68448)

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)
• 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)
• 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 (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 (J:68448)

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
01/26/2016
MGI 6.02
The Jackson Laboratory