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Phenotypes Associated with This Genotype
Genotype
MGI:3578783
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Tg(Gdf5-cre-ALPP)1Kng/0
Genetic
Background
involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (59 available)
Tg(Gdf5-cre-ALPP)1Kng mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Joint defects in Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr Tg(Gdf5-cre-ALPP)1Kng/0 mice

skeleton
• 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
• at 7 weeks and 9 months, subchondral sclerosis is seen, especially in the epiphysis of the femur
• 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
• 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
• 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
• 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
• at 7 weeks and 9 months, the domed epiphysis of the tibia is flattened and depressed
• accelerated cartilage maturation is seen
• the range of motion of the digit joints is reduced

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

hearing/vestibular/ear
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

limbs/digits/tail
• 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
• 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

craniofacial
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

growth/size/body
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

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


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
02/16/2021
MGI 6.16
The Jackson Laboratory