Phenotypes associated with this allele

• Allele Symbol: Gdf5^Rgsc451
• Allele Name: RIKEN Genomic Sciences Center (GSC), 451
• Allele ID: MGI:3699319
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdf5^Rgsc451/Gdf5^Rgsc451	C57BL/6JJcl-Gdf5^Rgsc451	MGI:3758631
ht2	Gdf5^Rgsc451/Gdf5^+	C57BL/6JJcl-Gdf5^Rgsc451	MGI:3758632

Genotype
MGI:3758631

hm1

• Allelic Composition: Gdf5^Rgsc451/Gdf5^Rgsc451
• Genetic Background: C57BL/6JJcl-Gdf5^Rgsc451

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

skeleton

abnormal phalanx morphology ( J:125122 )

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

abnormal long bone epiphyseal plate morphology ( J:125122 )

• the growth plate of the distal femur and proximal tibia are abnormal

abnormal long bone epiphysis morphology ( J:125122 )

• the trabecular bone is poorly formed at the epiphysis of the knee joint

decreased length of long bones ( J:125122 )

• long bones in the hinblimb (tibia, fibula and femur) are shortened

decreased chondrocyte number ( J:125122 )

• chondrocyte number in degenerating elbow joints is reduced

abnormal articular cartilage morphology ( J:125122 )

• elbow joints exhibit early degenerative changes in the articular cartilage

• articular cartilage surface is fribrillated, cracking, and loses the superficial zone

fused joints ( J:125122 )

• 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

abnormal phalanx morphology ( J:125122 )

• 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

Genotype
MGI:3758632

ht2

• Allelic Composition: Gdf5^Rgsc451/Gdf5⁺
• Genetic Background: C57BL/6JJcl-Gdf5^Rgsc451

limbs/digits/tail

brachypodia ( J:125122 )

abnormal phalanx morphology ( J:125122 )

• the proximal and middle phalanges are short and fused

• however, the lengths of the distal phalanges and metacarpal/metatarsal bones are normal

skeleton

abnormal phalanx morphology ( J:125122 )

• the proximal and middle phalanges are short and fused

• however, the lengths of the distal phalanges and metacarpal/metatarsal bones are normal

abnormal cartilage morphology ( J:125122 )

• at 8 weeks, the peripheral (finger/toe) joints in 1 of 3 mice exhibits mild degeneration in the distal interphalangeal joint

fused joints ( J:125122 )

• the metacarpo-/metatarso-phalanges joints are fused