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Allele Symbol Allele Name Allele ID |
Bmpr1atm2.2Bhr targeted mutation 2.2, Richard R Behringer MGI:2181295 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | 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
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• 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
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• at 7 weeks and 9 months, subchondral sclerosis is seen, especially in the epiphysis of the femur
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• 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
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• 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
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• 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
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• 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
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• at 7 weeks and 9 months, the domed epiphysis of the tibia is flattened and depressed
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• accelerated cartilage maturation is seen
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• the range of motion of the digit joints is reduced
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• the ability to grasp and remain suspended from a slender rod is significantly reduced
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• the ears are shorter and often lay flatter against the head
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• the ears are shorter than normal
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• 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
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• 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
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• the ears are shorter and often lay flatter against the head
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• the ears are shorter than normal
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• the ears are shorter and often lay flatter against the head
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• the ears are shorter than normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteoarthritis | DOID:8398 | J:97780 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud
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• at E10, hindlimb buds were smaller
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• mutants were recovered at mendelian frequencies at E10.5
• began to be lost by E11.5 and no live mutant were recovered at E14.5
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• abnormalities of outflow tract and right ventricle was evident by E8.5
• at E13.5 severe abnormalities of outflow tract formation with evident of persistent truncus arteriosus and underdeveloped valves
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• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
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• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
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• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
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• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
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• by E11.5 ectopic outgrowths were observed on the ventral surface of the hindlimb bud
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• at E10, hindlimb buds were smaller
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• by E13.5 hindlimb formation was severely abnormal
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• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
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• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
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• proliferation of developing hindlimb buds was severely decreased
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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 04/30/2024 MGI 6.23 |
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