normal phenotype
• mutants show no defects in limb patterning and skeletogenesis
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Allele Symbol Allele Name Allele ID |
Bmp2tm1Cjt targeted mutation 1, Clifford J Tabin MGI:3699309 |
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Summary |
9 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants show no defects in limb patterning and skeletogenesis
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice exhibit variable penetrance pre- and postaxial syndactyly
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice have more severe skeletal defects than Bmp2-heterozygous, Bmp4-homozygous mice, including significantly thinner skeletal elements
• animals do not have abnormal digit patterns
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• AER is expanded and maintained much later (>E15.5) than in wild-type
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• at E11.5, limb buds are noticeably broader relative to wild-type
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• has not yet started at birth
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• interdigital apoptosis is reduced at E15.5
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• AER is expanded and maintained much later (>E15.5) than in wild-type
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• at E11.5, limb buds are noticeably broader relative to wild-type
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• at E15.5 autopod adopts notched pallet form, with only distal tip of each digit separated
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• autopod elements are reduced in size
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• the two posterior-most digits are missing in the forelimbs
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• in newborns, the digits of both forelimb and hindlimb show complete syndactyly
• in the limbs of E15.5 embryos, only the very distal tip of each digit is separated, with the autopod adopting the shape of a notched pallet
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• mice have short and malformed stylopods
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• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify
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• mice have short and malformed stylopods
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• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify
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• at 3 weeks, all mineralized cartilage in diaphyseal region has disappeared, leaving a void where bone formation should have occurred
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• cavity formation is delayed
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• loss of posterior digits in the forelimbs due to failure of chondrogenesis in this region as indicated by marker analysis
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• joint articulations are defective such that the zeugopod and stylopod elements are fused
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• 1-3 weeks after birth, no bone marrow cavity, trabecular bone, or cortical bone is present
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• at 1-3 weeks after birth , bone formation is not observed in femur for example; skeletal elements in mutants remain similar to E17.5 structures seen in wild-type limbs
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• in E17.5 limbs, delay in endochondral process is observed; bone morphology at birth resembles E17.5 in wild-type
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• interdigital apoptosis is reduced at E15.5
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants are completely like wild-type in skeletal pattern and differentiation
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mutants are completely like wild-type in skeletal pattern and differentiation
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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 |
• the last phalanx is missing from digit III in the forelimb and sometimes from the hindlimb
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• fibulae of hindlimbs are malformed and do not articulate with the femur at the knee
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• overall size of the appendicular skeleton is slightly diminished
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• the last phalanx is missing from digit III in the forelimb and sometimes from the hindlimb
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• fibulae of hindlimbs are malformed and do not articulate with the femur at the knee
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• scapular defect
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice have a variable penetrance of 3/4 soft tissue syndactyly
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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 08/02/2024 MGI 6.24 |
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