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Phenotypes Associated with This Genotype
Genotype
MGI:3800676
Allelic
Composition		 Fbn1Tsk/Fbn1+
Il4ratm1Sz/Il4ra+
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 (173 available)
Il4ratm1Sz mutation (2 available); any Il4ra mutation (46 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
respiratory system
overexpanded pulmonary alveolus ( J:68448 )
• enlarged alveoli and a histologic picture of emphysema are found, similar to that seen in tight skin heterozygotes that are wildtype for Il4ra

immune system
increased autoantibody level ( J:68448 )
• increased anti-topoisomerase antibodies relative to wildtype, but lower than in tight skin mice wildtype for Il4ra

integument
thick skin ( J:68448 )
• the skin is as thick as tight skin heterozygotes wildtype for Il4ra

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
pulmonary emphysema DOID:9675 OMIM:130700
 J:68448

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory