Analysis Tools|
Allele Symbol Allele Name Allele ID |
Foxc2tm1Blh targeted mutation 1, Brigid L Hogan MGI:1857865 |
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| Summary |
10 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 |
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• between E12.5 and E13.5 most homozygotes die
• a few embryos that are not as severely affected do survive to birth
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• in the most severely affected embryos intersegmental blood vessels are missing
• no other gross cardiovascular abnormalities are found
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• between E8.5 and E12.5 large pools of blood are frequently found around the hindbrain
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• between E8.5 and E12.5 large pools of blood are frequently found around the spinal cord
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• in newborns the basioccipital bone is misshapen and reduced
• at E16.5 the basioccipital bone is reduced
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• at E16.5 the Meckel's cartilage is misshapen and reduced
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• at E16.5
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• in newborns the interparietal bone is misshapen and reduced
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• in newborns the exoccipital bone is misshapen and reduced
• at E16.5 the exoccipital bone is reduced
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• in newborns no trace of the supraoccipital bone is found
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• in newborns the presphenoid bone is largely missing
• at E16.5 the presphenoid bone is missing
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• in newborns the pterygoid bone is reduced
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• in newborns the squamosal bone is misshapen and reduced
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• at E16.5 the mandible is misshapen and reduced
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• at E16.5 the palatine processes are missing
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• in newborns the palatine bone is largely missing
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• in newborns the incus is absent
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• in newborns the malleus is misshapen
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• in newborns the gonial bone is malformed and fails to properly attach to the tympanic ring
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• in newborns the stapes is absent
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• from E8.5 to E12.5, 42% of embryos exhibit a severely crooked neural tube
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• between E 9.5 and E12.5 proliferation of cells derived from the sclerotome (that gives rise to the vertebrae and ribs) is reduced in BrdU labeling assays
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• from E8.5 to E12.5 42% of embryos exhibit irregular somites
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• in newborns the incus is absent
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• in newborns the malleus is misshapen
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• in newborns the gonial bone is malformed and fails to properly attach to the tympanic ring
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• in newborns the stapes is absent
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• in newborns the tympanic ring is reduced
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• in newborns the basioccipital bone is misshapen and reduced
• at E16.5 the basioccipital bone is reduced
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• in newborns the interparietal bone is misshapen and reduced
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• in newborns the exoccipital bone is misshapen and reduced
• at E16.5 the exoccipital bone is reduced
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• in newborns no trace of the supraoccipital bone is found
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• in newborns the presphenoid bone is largely missing
• at E16.5 the presphenoid bone is missing
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• in newborns the pterygoid bone is reduced
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• in newborns the squamosal bone is misshapen and reduced
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• at E16.5 the mandible is misshapen and reduced
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• at E16.5 the palatine processes are missing
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• in newborns the palatine bone is largely missing
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• in newborns the incus is absent
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• in newborns the malleus is misshapen
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• in newborns the gonial bone is malformed and fails to properly attach to the tympanic ring
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• in newborns the stapes is absent
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• at E16.5 and birth multiple ribs are fused or missing
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• at E16.5 and birth ribs are often fused together and/or fused directly to the neural arches
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• at E16.5 and birth the neural arches are misshapen and have reduced ossification
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• at E16.5 and birth in the cervical and upper thoracic region the ossification centers of the centrum are absent
• at E16.5 and birth in the lower thoracic, lumbar, and sacral regions the ossification centers of the centrum form but fail to fuse medially
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• at E16.5 the otic capsule cartilage is reduced in size
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• at E16.5 the Meckel's cartilage is misshapen and reduced
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• at E16.5
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• between E8.5 and E12.5 large pools of blood are frequently found around the hindbrain
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• between E8.5 and E12.5 large pools of blood are frequently found around the spinal cord
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• from E8.5 to E12.5, 42% of embryos exhibit a severely crooked neural tube
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• 5 of 8 newborn homozygotes display small kidneys with a single ureter
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• at E16.5 the palatine processes are missing
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• at E16.5 the palatine processes are missing
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abnormalities similar to those in Foxc1tm1Blh heterozygotes are seen
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• small or absent
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• areas may be hypoplastic or absent
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• hypoplastic development
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• thin
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• thin
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• thin
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• despite the lack of somites, proliferation and apoptosis rates of paraxial mesoderm are normal
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• at E9.5, mesonephric tissue is expanded and disorganized compared to in wild-type mice
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• mice exhibit ectopic expression of intermediate mesoderm markers leading to increased lateralization of somites
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• mice lack somites
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E9.5, mesonephric tissue is expanded and disorganized compared to in wild-type mice
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• somites are very narrow and irregular
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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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• most embryos die between E14.5 and birth
• double heterozygotes shown signs of cardiac failure between E13.5 and E15.5
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• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
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• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
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• coarctation of the arch of the aorta is found in 8 of 17 embryos at E13.5
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• at E12.5 and 13.5 type B interruption of the arch of the aorta is seen
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• the number of coronary vessels is decreased in embryos examined between E15.5 and E17.5
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• in embryos collected between E13.5 and E15.5 the superior caval veins are overexpanded
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• the thickness of the myocardium of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
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• the extent of trabeculations of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
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• the membraneous portion of the ventricular septum fails to fuse at E13.5 (15 out of 17)
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• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)
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• the leaflets are thickened and partially fused
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• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)
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• the leaflets are thickened and partially fused
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• 65% of embryos collected between E13.5 and E15.5 are edematous
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• the fetal liver is enlarged and engorged with blood
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• 26% of newborn double heterozygotes display hydronephrosis
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• 7 of 19 newborn double heterozygotes have hypoplastic kidneys (less than 3/4 of wild-type length)
• hypoplastic kidneys are either unilateral (71%) or bilateral (29%)
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• 5% of newborn double heterozygotes show renal agenesis
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• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters
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• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters
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• 13 of 19 double heterozygotes have a single hydroureter
• hydroureter is either unilateral (85%) or bilateral (15%)
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• at E10.5, 2 of 3 double heterozygotes show a much broader outgrowth of the ureteric bud
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• at E11.0, 3 of 4 double heterozygotes exhibit an ectopic ureteric bud
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| N |
• no gross malformations of the vertebral column, ribs, or skull are found
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• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
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• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
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• double heterozygotes display extra mesonephric tubules distributed caudally between somites 16 and 23
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• abnormalities similar to those in Foxc1tm1Blh heterozygotes are seen
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• small or absent
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• areas may be hypoplastic or absent
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• intermittent abnormalities are seen
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• more severely affected than in either single heterozygote
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• almost completely absent in some areas
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• corneal ulcers and immune cell infiltrates are present in some eyes
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• present in some eyes
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• in some cases
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• the thickness of the myocardium of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
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• the extent of trabeculations of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
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• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
|
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• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
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• the fetal liver is enlarged and engorged with blood
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double homozygotes die at ~E9.0-E9.5 with a much more severe phenotype than that of either single homozygote alone
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• at E9.0, most blood vessels are still organized into primitive plexi; no blood vessels have sprouted from the dorsal aorta
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• at E9.0, double homozygotes exhibit a dilated dorsal aorta with blood accumulated probably as a result of a weakly beating heart
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• at E9.0, double homozygotes show a disorganized myocardium
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• at E9.0, double homozygotes display a small heart
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• at E9.5, double homozygotes occasionally display an enlarged pericardial sac
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• at E9.0, double homozygotes display a weak heartbeat
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• at E9.0, double homozygotes have very small first branchial arches
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• at E9.0, double homozygotes completely lack a second branchial arch and have a very small first branchial arch
• dense accumulations of mesenchymal cells with pycnotic nuclei are detected in place of a second branchial arch
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• at E9.0, double homozygotes have very small first branchial arches
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• at E9.0, double homozygotes completely lack a second branchial arch and have a very small first branchial arch
• dense accumulations of mesenchymal cells with pycnotic nuclei are detected in place of a second branchial arch
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• at E9.5, double homozygotes are significantly smaller than wild-type embryos
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• at E9.0, double homozygotes display absence of segmented paraxial mesoderm
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• sparse mesenchyme
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• at E9.5, double homozygotes usually display an open anterior neural tube
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• at E9.0, sections at the level of the first branchial arch reveal ectopic epithelial tubes that may represent endoderm that would have formed branchial pouches
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• at E9.5, double homozygotes fail to establish A/P domains in the anterior presomitic mesoderm
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• at E9.5, double homozygotes display absence of segmented, epithelialized somites, including dermamyotome, in the trunk region
• absence of the most anterior somites (1-8) indicates a defect in early somitogenesis
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• at E9.0, double mutant yolk sacs contain only enlarged vessels in a primitive plexus that has undergone very little remodeling; no small blood vessels are present
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• at E9.5, double homozygotes are significantly smaller than wild-type embryos
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• at E9.0, double homozygotes show a disorganized head structure, including sparse mesenchyme and enlarged blood vessels
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• sparse mesenchyme
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• at E9.5, double homozygotes usually display an open anterior neural tube
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• at E9.0, double homozygotes show a disorganized myocardium
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant embryos die at ~E11.5
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| N |
• at E9.5, mutant embryos display no obvious defects in remodeling of blood vessels; however, an in-depth phenotype analysis is warranted
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant embryos die at ~E10.5, with a more severe phenotype than that of double heterozygotes or either single homozygote alone
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• at E10.5, mutant embryos show extensive defects in the remodeling of blood vessels in the head and body
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• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
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• enlarged in some mice
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• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
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• enlarged in some mice
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• at E10.5, mutant embryos lack a second branchial arch
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• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
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• enlarged in some mice
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• at E10.5, mutant embryos lack a second branchial arch
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• at E10.5, mutant embryos have abnormally shaped somites
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• at E10.5, mutant embryos have abnormally small somites
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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 12/17/2024 MGI 6.24 |
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