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Phenotypes Associated with This Genotype
Genotype
MGI:3758631
Allelic
Composition
Gdf5Rgsc451/Gdf5Rgsc451
Genetic
Background
C57BL/6JJcl-Gdf5Rgsc451
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf5Rgsc451 mutation (1 available); any Gdf5 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the proximal and middle phalanges are short and fused and obviously shortened in digits 2 and 5
• the growth plate of the distal femur and proximal tibia are abnormal
• the trabecular bone is poorly formed at the epiphysis of the knee joint
• long bones in the hinblimb (tibia, fibula and femur) are shortened
• chondrocyte number in degenerating elbow joints is reduced
• elbow joints exhibit early degenerative changes in the articular cartilage
• articular cartilage surface is fribrillated, cracking, and loses the superficial zone
• the carpal/tarsal, proximal interpharlangeal, metacarpo-/metatarso-phalanges,and knee joints are fused
• however, the phalanx, distal interphalangeal, wrist and elbow joints are normal

limbs/digits/tail
• the proximal and middle phalanges are short and fused and obviously shortened in digits 2 and 5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:125122


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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory