Phenotypes Associated with This Genotype

Genotype
MGI:3578783

• Allelic Composition: Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.2Bhr; Tg(Gdf5-cre,-ALPP)1Kng/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

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

Joint defects in Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.2Bhr Tg(Gdf5-cre,-ALPP)1Kng/0 mice

skeleton

osteoarthritis ( J:97780 )

• digit joints are normal at birth but cartilage is lost as the mutants age; however neutrophils are not seen in the joints

• deterioration similar to that in the foot is also seen in the knee

osteosclerosis ( J:97780 )

• at 7 weeks and 9 months, subchondral sclerosis is seen, especially in the epiphysis of the femur

abnormal articular cartilage morphology ( J:97780 )

• many joints, including those in the foot and the knee, showed a decrease in cartilage however cartilage was normal in non-articular regions

• cartilage formation is reduced and cells with a noncartilaginous appearance are seen in the fibrocartilaginous meniscus that sits between the femur and tibia

abnormal synovial joint membrane morphology ( J:97780 )

• hypertrophy of the synovial membrane is seen in some joints, particulary in the ankle region

• in severely affected joints the synovial membrane grows into the joint space and this is associated with articular cartilage loss

• synovial hypertophy decreases with age

fused joints ( J:97780 )

• at some sites in the ankles the joints appear to be absent and bones that are normally separated are fused

• in all mutants the second distal tarsal was fused to the central tarsal bone

abnormal skeleton development ( J:97780 )

• E15.5 expression of early joint markers is decreased in the ankle suggesting the fusion of some of the ankle joints is a result of incomplete segmentation

abnormal long bone epiphysis morphology ( J:97780 )

• at 7 weeks and 9 months, the domed epiphysis of the tibia is flattened and depressed

abnormal cartilage development ( J:97780 )

• accelerated cartilage maturation is seen

decreased joint mobility ( J:97780 )

• the range of motion of the digit joints is reduced

behavior/neurological

decreased grip strength ( J:97780 )

• the ability to grasp and remain suspended from a slender rod is significantly reduced

hearing/vestibular/ear

abnormal ear shape ( J:97780 )

• the ears are shorter and often lay flatter against the head

short ears ( J:97780 )

• the ears are shorter than normal

limbs/digits/tail

syndactyly ( J:97780 )

• soft tissue syndactyly is seen involving the first and second digits that is more severe and more frequent in the forefeet compared to the hindfeet (incidence of 91% and 50%, respectively)

• decreased apoptosis is seen at E14.5 between the first and second digits and in the posterior margin of the fifth digit

immune system

osteoarthritis ( J:97780 )

• deterioration similar to that in the foot is also seen in the knee

• digit joints are normal at birth but cartilage is lost as the mutants age; however neutrophils are not seen in the joints

craniofacial

abnormal ear shape ( J:97780 )

• the ears are shorter and often lay flatter against the head

short ears ( J:97780 )

• the ears are shorter than normal

growth/size/body

abnormal ear shape ( J:97780 )

• the ears are shorter and often lay flatter against the head

short ears ( J:97780 )

• the ears are shorter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoarthritis		DOID:8398		J:97780