International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 209 - ANALYSIS OF MUTANTS WITH ARTHRITIS LIKE PHENOTYPE IN THE MOUSE

Mr Abe Koichiro
GSF Research Center
Institute of Experimental Genetics
Ingolstaedter
Landstr.1
Neuherberg
D-85764
Germany

Co-Authors:  Fuchs H and Hrabe de Angelis M
Institutions:   GSF Research Center, Institute of Experimental Genetics

Analysis of mutants with arthritis like phenotype in the mouse.

Arthritis, an inflammatory condition that causes pain and stiffness in joints, is a common human disease.  Although the patients are mostly treated with anti-inflammatory drugs, the actual causes and processes of the inflammation are largely unknown.  From ENU dominant dysmorphology screen, a novel mutation ALI18, which exhibits a swollen limb phenotype at adult stage, was isolated.  Both hind feet of ALI18 heterozygote become red initially then swollen around 10 weeks of age.  Homozygous ALI18 mutants exhibit a severer phenotype than the heterozygous mice.  The swollen hind feet phenotype in homozygote can be observed earlier, at 4-8 weeks of age, and subsequently severe swelling deforms toes.  Histological examination revealed that cyto-architecture of limbs from ALI18 was destroyed by an inflammatory infiltration that consisted of polymorphonuclear leukocytes and lymphocytes.  Cartilage of ALI18 mutants is morphologically normal, although abnormal synovium is infiltrated to joint space of toes.  Since the phenotype of heterozygote is completely repressed in hybrid backgrounds, ALI18 homozygous animals were outcrossed to C57BL/6 and intercross analysis of the F1 heterozygous animals was set up.  Only affected F2 animals were used for genetic mapping of ALI18 locus.  Candidate approach and efforts to narrow down a critical region are in progress to identify the ALI18 gene.  We will present data from the analysis of the mutant ALI18, which could be a model for degenerative limb diseases in humans.


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