About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3800678
Allelic
Composition
Fbn1Tsk/Fbn1+
Tgfb1tm1N/Tgfb1+
Genetic
Background
involves: 129S/SvEv * 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)
Tgfb1tm1N mutation (0 available); any Tgfb1 mutation (16 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 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

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 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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/12/2016
MGI 6.04
The Jackson Laboratory