|
Allele Symbol Allele Name Allele ID |
Gsctm1Bhr targeted mutation 1, Richard R Behringer MGI:1857726 |
||||||||||||||||||||||||||||||||
| Summary |
7 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• incidence of craniofacial defects is 100% on all strain backgrounds examined
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• incidence of craniofacial defects is 100% on all strain backgrounds examined
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• fail to suckle and die within 24 hours of birth
|
|
• unable to suckle
• however, mice do accumulate milk in the stomach when forcefed
|
|
• several bones at the base of the skull are malformed
|
|
• a groove extends along the Meckel's cartilage of the mandible
|
|
• reduced size of the orbital process
|
|
• malformed
|
|
• malformed
|
|
• abnormalities are detectable at E13.5
|
|
• short with diminished coronoid and angular processes
• however, the condilar process is normal
|
|
• malformed
• reduced size of the maxillary orbital process
|
|
• malformed
|
|
• absence of turbinal anlagen at E15.5 and E18.5
|
|
• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• forms but does not migrate as far inward at E15.5 and E18.5
|
|
• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
|
|
• at E15.5 and E18.5
|
|
• absence of turbinal anlagen at E15.5 and E18.5
|
|
• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
|
|
• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
|
|
• fails to fuse with the palate
|
|
• difficulty breathing resulting in accumulation of air in the stomach and intestines
|
|
• reduced density of the muscle fibers in the extrinsic muscles
|
|
• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
| N |
• despite abundant expression in developing limbs, no skeletal deformities are seen in the limbs
|
| N |
• despite developmental expression, the thyroid and thymus are present
|
|
• incidence of craniofacial defects is 100% on all strain backgrounds examined
|
|
• several bones at the base of the skull are malformed
|
|
• a groove extends along the Meckel's cartilage of the mandible
|
|
• reduced size of the orbital process
|
|
• malformed
|
|
• malformed
|
|
• abnormalities are detectable at E13.5
|
|
• short with diminished coronoid and angular processes
• however, the condilar process is normal
|
|
• malformed
• reduced size of the maxillary orbital process
|
|
• malformed
|
|
• reduced size of the manubrium and process brevis
• however, the incus and stapes are normal
|
|
• reduced density of the muscle fibers in the extrinsic muscles
|
|
• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
|
• absence of turbinal anlagen at E15.5 and E18.5
|
|
• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
|
|
• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
|
|
• fails to fuse with the palate
|
|
• forms but does not migrate as far inward at E15.5 and E18.5
|
|
• reduced density of the muscle fibers in the extrinsic muscles
|
|
• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
|
• reduced density of the muscle fibers in the extrinsic muscles
|
|
• abnormal insertions of the genioglossus muscle onto the Meckel's cartilage
|
|
• absence of turbinal anlagen at E15.5 and E18.5
|
|
• absence of the ventrolateral walls at E15.5 and E18.5
• however, midline structures (septum and vomeronasal organs) are present
|
|
• at E15.5 and E18.5, the glandular mucous epithelium in the nasal sinuses is mostly absent
|
|
• fails to fuse with the palate
|
|
• forms but does not migrate as far inward at E15.5 and E18.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die around E11.5
|
|
• abnormal at E8.75
|
|
• 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
|
|
• at E9.5
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• arrest around the 20 - 25 somite stage
|
|
• at E9.0 - E9.5
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• reduced in size at E9.0 - E9.5
|
|
• at E9.5 the dorsal aorta is elongated, enlarged, or disorganized
|
|
• the first branchial arch arteries are either not visible or poorly formed
|
|
• greatly enlarged anterior cardinal veins at E9.5
|
|
• by E9.5, the dorsal mesocardium fails to form resulting in connection of the heart to the gut
|
|
• defects in heart looping are seen at E8.75
• at E9.5 the heart is a straight or S-shaped tube at the midline
|
|
• the dorsal mesocardium fails to form
|
|
• smaller at E9.5 in less severely affected embryos
|
|
• 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
|
|
• 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
|
|
• 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
|
|
• dorsal-ventral patterning is abnormal
|
|
• dramatically reduced at E8.75
|
|
• reduced in size at E9.0 - E9.5
|
|
• at E9.0 - E9.5
|
|
• smaller and abnormally shaped
|
|
• at E9.0 - E9.5
|
|
• abnormal at E8.75
|
|
• 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
|
|
• at E9.5
• expression analysis indicates reduced populations of both mesodermal and neural crest cells
|
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• embryos are small and thin
|
|
• embryos are small and thin
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• embryos are small and thin
|
|
• embryos are small and thin
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools