Analysis Tools|
Allele Symbol Allele Name Allele ID |
Gsctm1Bhr targeted mutation 1, Richard R Behringer MGI:1857726 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: incidence of rib defects is 15% on this background compared to 70% and 54% on an congenic C57BL/6 or a mixed 129S7/SvEvBrd and C57BL/6 background, respectively
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• incidence of craniofacial defects is 100% on all strain backgrounds examined
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: incidence of rib defects is 70% on this background compared to 15% and 54% on an coisogenic 129S7/SvEvBrd or a mixed 129S7/SvEvBrd and C57BL/6 background, respectively
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• incidence of craniofacial defects is 100% on all strain backgrounds examined
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fail to suckle and die within 24 hours of birth
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• unable to suckle
• however, mice do accumulate milk in the stomach when forcefed
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• several bones at the base of the skull are malformed
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• a groove extends along the Meckel's cartilage of the mandible
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• reduced size of the orbital process
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• malformed
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• malformed
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• abnormalities are detectable at E13.5
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• short with diminished coronoid and angular processes
• however, the condilar process is normal
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• malformed
• reduced size of the maxillary orbital process
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• malformed
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• absence of turbinal anlagen at E15.5 and E18.5
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• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
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• in 20% of skeletons (distinct from those with rib fusions) a reduction in the number of ribs attached to the sternum is seen at E14
• attachment abnormalities may be unilateral or bilateral
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• Background Sensitivity: incidence of rib defects is 54% on this background compared to 15% and 70% on an coisogenic 129S7/SvEvBrd or a congenic C57BL/6 background, respectivel
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• detected in about 35% of skeletons at E14.0, primarily between the costal cartilages of the first and second ribs
• fusions may be unilateral or bilateral
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• forms but does not migrate as far inward at E15.5 and E18.5
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• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
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• at E15.5 and E18.5
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• absence of turbinal anlagen at E15.5 and E18.5
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• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
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• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
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• fails to fuse with the palate
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• difficulty breathing resulting in accumulation of air in the stomach and intestines
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• reduced density of the muscle fibers in the extrinsic muscles
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• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
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| N |
• despite abundant expression in developing limbs, no skeletal deformities are seen in the limbs
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| N |
• despite developmental expression, the thyroid and thymus are present
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• incidence of craniofacial defects is 100% on all strain backgrounds examined
|
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• several bones at the base of the skull are malformed
|
|
• a groove extends along the Meckel's cartilage of the mandible
|
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• reduced size of the orbital process
|
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• malformed
|
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• malformed
|
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• abnormalities are detectable at E13.5
|
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• short with diminished coronoid and angular processes
• however, the condilar process is normal
|
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• malformed
• reduced size of the maxillary orbital process
|
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• malformed
|
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• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
|
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• reduced density of the muscle fibers in the extrinsic muscles
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• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
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• absence of turbinal anlagen at E15.5 and E18.5
|
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• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
|
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• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
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• fails to fuse with the palate
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• forms but does not migrate as far inward at E15.5 and E18.5
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• reduced density of the muscle fibers in the extrinsic muscles
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• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
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• reduced density of the muscle fibers in the extrinsic muscles
|
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• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
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• absence of turbinal anlagen at E15.5 and E18.5
|
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• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
|
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• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
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• fails to fuse with the palate
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• forms but does not migrate as far inward at E15.5 and E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die around E11.5
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• abnormal at E8.75
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• pyknotic cells are seen in the mesenchyme of the first branchial arches
• the first branchial arch arteries are either not visible or poorly formed
• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm
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• the first branchial arch arteries are either not visible or poorly formed
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• at E9.5
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
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• pyknotic cells are seen in the mesenchyme of the second branchial arches
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• at E9.5
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
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• at E8.75 defects are seen in the anterior end of the embryo including the region of the heart; however, development posterior to the heart is normal
• variable severity of the defects at E9.0 - E9.5
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• at E9.0 - E9.5 dorsal-ventral patterning of the forebrain is abnormal
• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures
• however, anterior-posterior patterning of the neural tube is unaffected
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• arrest around the 20 - 25 somite stage
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• at E9.0 - E9.5
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• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction
• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures
• however, anterior-posterior patterning of the neural tube is unaffected
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• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord
• reduction in neuroepithelium is most severe in the forebrain
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• in severely affected embryos notochord cells disappear from the rostral half of the embryo by E9.5
• however, in less severely affected embryos notochord cells are maintained
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• reduced in size at E9.0 - E9.5
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• at E9.5 the dorsal aorta is elongated, enlarged, or disorganized
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• the first branchial arch arteries are either not visible or poorly formed
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• greatly enlarged anterior cardinal veins at E9.5
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• by E9.5, the dorsal mesocardium fails to form resulting in connection of the heart to the gut
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• defects in heart looping are seen at E8.75
• at E9.5 the heart is a straight or S-shaped tube at the midline
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• the dorsal mesocardium fails to form
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• smaller at E9.5 in less severely affected embryos
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• at E9.5 in more severely affected embryos the optic vesicle is lost as a result of lack of maintenance as optic vesicles are present at E8.75
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• at E9.5 in severely affected embryos the floor and roof of the neural tube are in contact with each other at the diencephalic-mesencephalic junction
• at E9.0 - E9.5 in severely affected embryos expression analysis indicates ventral expansion of dorsal cell fates in floor plate cells with resulting loss of ventral structures
• however, anterior-posterior patterning of the neural tube is unaffected
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• at E9.5 in less severely affected embryos thinning of the neuroepithelium is seen in the forebrain, hindbrain, and spinal cord
• reduction in neuroepithelium is most severe in the forebrain
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• dorsal-ventral patterning is abnormal
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• dramatically reduced at E8.75
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• reduced in size at E9.0 - E9.5
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• at E9.0 - E9.5
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• smaller and abnormally shaped
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• at E9.0 - E9.5
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• abnormal at E8.75
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• pyknotic cells are seen in the mesenchyme of the first branchial arches
• the first branchial arch arteries are either not visible or poorly formed
• epithelium of the first arch fails to fuse ventrally with the pharyngeal endoderm
|
|
• the first branchial arch arteries are either not visible or poorly formed
|
|
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
• at E9.5
|
|
• pyknotic cells are seen in the mesenchyme of the second branchial arches
|
|
• at E9.5
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
|
|
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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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• phenotype at E9.5 is similar to that of Foxa2 single homozygotes with no increase in the severity of the defect in development of the anterior posterior axis
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• embryos are small and thin
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• embryos are small and thin
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype at E9.5 is similar to that of Foxa2 single homozygotes with no increase in the severity of the defect in development of the anterior posterior axis
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• embryos are small and thin
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• embryos are small and thin
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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 11/05/2024 MGI 6.24 |
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