Analysis Tools
normal phenotype
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• homozygotes are viable and fertile with no discernible phenotypes
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Allele Symbol Allele Name Allele ID |
Bmp2tm1Jfm targeted mutation 1, James F Martin MGI:3583785 |
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| Summary |
16 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes are viable and fertile with no discernible phenotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• compound heterozygous mutant mice are viable, fertile and phenotypically normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the size of the first branchial arch is normal at E10.5
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| N |
• the size of the first branchial arch is normal at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no embryos are found after E12.5
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• dramatic reduction in the amount of sarcomeric myosin
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although present at the expected Mendelian frequency at E9.5, all mutant embryos exhibit heart failure at E10.5
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• by E10.5, mutant embryos exhibit a severely compromised myocardium
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• at E9.5, all mutant embryos, including those with cardiac jelly deposition, fail to undergo epithelial to mesenchymal transition (EMT) in the forming AV endocardial cushions
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• at E9.5, 43% of mutants fail to expand the space between the myocardium and the endocardium, indicating defective cardiac jelly formation
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• at E9.5, mutant embryos display abnormal AV canal constriction
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• by E10.5, all mutant embryos exhibit pericardial effusion
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• by E10.5, all mutant embryos appear growth retarded
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• by E10.5, all mutant embryos appear growth retarded
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• by E10.5, all mutant embryos exhibit pericardial effusion
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• by E10.5, mutant embryos exhibit a severely compromised myocardium
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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 |
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• drastic reduction in most cranial neural crest derived bones
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• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the interparietal bone are absent
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• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the nasal bone are absent
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• drastic reduction in most cranial neural crest derived bones
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• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the interparietal bone are absent
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• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased size
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• decreased size
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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 |
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• drastic reduction in most cranial neural crest derived bones
|
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• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the interparietal bone are absent
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• pieces of the squamosal bone are absent
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• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• decreased size
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• pieces of the condyloid process are absent
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• pieces of the nasal bone are absent
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• drastic reduction in most cranial neural crest derived bones
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• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• pieces of the interparietal bone are absent
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• pieces of the squamosal bone are absent
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• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
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• decreased size
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• pieces of the condyloid process are absent
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• missing pieces
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• missing pieces
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• missing pieces
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased size
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• missing pieces
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• decreased size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• pieces of the interparietal bone are absent
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• decreased size
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• pieces of the condyloid process are absent
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• pieces of the nasal bone are absent
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• pieces of the interparietal bone are absent
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• decreased size
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• pieces of the condyloid process are absent
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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• pieces of the nasal bone are absent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die at birth as a result of a severe cleft palate defect
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| N |
• neural crest-derived cell migration, cell proliferation and apoptosis of palatal mesenchyme is unaffected
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• newborns exhibit multiple craniofacial malformations typical of Pierre Robin sequence in humans
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• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume
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• Meckels cartilage is significantly smaller in size
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• smaller zygomatic process of squamous bone
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• maxillomandibular hypoplasia
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• coronoid process of the mandibular bone is missing
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• smaller and shorter jaw
• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia
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• ~10% reduction in mandibular bone length
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• smaller zygomatic process of the maxilla
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• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
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• newborns exhibit complete cleft palate due to failed palatal shelf elevation
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• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning
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• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume
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• Meckels cartilage is significantly smaller in size
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• smaller zygomatic process of squamous bone
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• maxillomandibular hypoplasia
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• coronoid process of the mandibular bone is missing
|
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• smaller and shorter jaw
• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia
|
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• ~10% reduction in mandibular bone length
|
|
• smaller zygomatic process of the maxilla
|
|
• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
|
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• newborns exhibit complete cleft palate due to failed palatal shelf elevation
|
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• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning
|
|
• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
|
|
• newborns exhibit complete cleft palate due to failed palatal shelf elevation
|
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• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased size
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• decreased size
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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 04/23/2024 MGI 6.23 |
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