Phenotypes Associated with This Genotype

Genotype
MGI:3576471

• Allelic Composition: Prg4^tm1Mawa/Prg4^tm1Mawa
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Prg4^tm1Mawa/Prg4^tm1Mawa mice develop joint disease with increasing age

skeleton

abnormal long bone epiphyseal plate morphology ( J:96756 )

• by 2 months of age, irregular endochondral growth plates are seen

abnormal joint morphology ( J:96756 )

• by 2 months of age, synovial hyperplasia, subintimal fibrosis, proteinaceous deposits on the cartilage surface, and irregular endochondral growth plates are seen

joint swelling ( J:96756 )

• by 4 months of age swelling of the tarsal joints is seen

• by 9 months of age, the knee joint space is filled by noninflammatory, hyperplastic synovium

• synovial hyperplasis is first seen at 2 weeks of age, progresses with age, and is the result of increased cell proliferation not decreased cell death

abnormal articular cartilage morphology ( J:96756 )

• by 2 months of age, joint cartilage displays proteinaceous deposits on the cartilage surface

• by 9 months of age, the articular cartilage surface in the knee is barely recognizable

calcified joint ( J:96756 )

• by 9 months of age, calcification is seen in structures flanking the ankle joints

behavior/neurological

abnormal gait ( J:96756 )

• by 4 months of age mutants develop a hopping gait

limbs/digits/tail

camptodactyly ( J:96756 )

• by 4 months of age flexion deformity of the hind paws is seen

cardiovascular system

cardiovascular system phenotype ( J:96756 )

N • no signs of pericardial overgrowth are seen unlike in human patients with Arthropathy-Camptodactyly Syndrome

homeostasis/metabolism

joint swelling ( J:96756 )

• by 9 months of age, the knee joint space is filled by noninflammatory, hyperplastic synovium

• by 4 months of age swelling of the tarsal joints is seen

• synovial hyperplasis is first seen at 2 weeks of age, progresses with age, and is the result of increased cell proliferation not decreased cell death