Analysis Tools|
Allele Symbol Allele Name Allele ID |
Fgf8tm1Mrc targeted mutation 1, Mario R Capecchi MGI:2150350 |
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| Summary |
15 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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• 100% die in the neonatal period
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• cardiovascular defects
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• hypoplastic third pharyngeal arch artery
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• severe cardiac outflow tract septation and alignment defects
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• craniofacial defects
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• hypoplastic third pharyngeal arch artery
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• hypoplastic third pharyngeal arch artery
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• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8 into the lateral regions of pharyngeal arch 3 and developing pharyngeal arches 4 and 6
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• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8 into the lateral regions of pharyngeal arch 3 and developing pharyngeal arches 4 and 6
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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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• severely affected mutants (35%) die by E10; most (65%) survive to birth
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• at E8.75 -10.5, surviving mutants have small pharyngeal arches
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• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle
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• conotruncal cushions are hypocellular compared to controls; fusion of cushions to form AP septum is delayed in mutants
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• 100% of E18.5/newborns have PTA
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• at E8.75 -10.5, surviving mutants have severe right ventricle hypoplasia
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• at E8.75 -10.5, surviving mutants have small pharyngeal arches
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in explants no cells manage to successfully undergo endothelial to mesenchymal transformation
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• outflow tracts are short and abnormally angulated
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• outflow tract cushions contain less cardiac jelly and fewer mesenchymal cells
• proximal outflow tract cushions are thinner and contain fewer cells while distal cushions are thinner but do not display a change in cell density
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• all show type III PTA (the outflow tract is unseptated along its entire proximodstal extent)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 30% die during the neonatal period because of lethal cardiovascular malformations
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• pharyngeal arch artery defects
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• defect in vascular tube formation in the fourth pharyngeal arch
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• exhibit an abnormally large third pharyngeal arch artery
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• only 1 of 33 have severe perturbation of outflow tract septation and alignment (Tetralogy of Fallot and BAV)
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• coronary vascular defects
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• 23% exhibit bicuspid aortic valves
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• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
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• parathyroid ectopy, hypoplasia, and aplasia
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• parathyroid gland aplasia
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• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
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• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
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• pharyngeal arch artery defects
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• defect in vascular tube formation in the fourth pharyngeal arch
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• exhibit an abnormally large third pharyngeal arch artery
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• pharyngeal arch artery defects
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• defect in vascular tube formation in the fourth pharyngeal arch
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• exhibit an abnormally large third pharyngeal arch artery
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• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
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• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
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• 25% die prior to birth
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• 30% show lethal vascular defects, however outflow tract development is normal
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• exhibit an abnormally large third pharyngeal arch artery
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• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)
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• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus
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• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects
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• subclavian artery anomalies
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• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects
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• 100% show severe craniofacial malformations
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• exhibit an abnormally large third pharyngeal arch artery
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• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
|
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
|
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
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• exhibit an abnormally large third pharyngeal arch artery
|
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• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
|
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• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
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• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
|
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• 25% die prior to birth
|
|
• 30% show lethal vascular defects
|
|
• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
|
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
|
|
• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)
|
|
• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus
|
|
• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects
|
|
• subclavian artery anomalies
|
|
• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects
|
|
• 100% show severe craniofacial malformations
|
|
• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
|
|
• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
|
• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
|
|
• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
|
|
• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
|
|
• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
|
• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
|
|
• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
|
|
• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 30% die during the neonatal period because of lethal cardiovascular malformations
|
|
• exhibit pharyngeal arch artery defects
|
|
• defect in vascular tube formation in the fourth pharyngeal arch
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• only 1 of 33 have severe perturbation of outflow tract septation and alignment (Tetralogy of Fallot and BAV)
|
|
• coronary vascular defects
|
|
• 23% exhibit bicuspid aortic valves
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
|
• parathyroid ectopy, hypoplasia, and aplasia
|
|
• aplasia
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
|
• exhibit pharyngeal arch artery defects
|
|
• defect in vascular tube formation in the fourth pharyngeal arch
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• exhibit pharyngeal arch artery defects
|
|
• defect in vascular tube formation in the fourth pharyngeal arch
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• severely affected Fgf8-deficient embryos (65%) die by E10
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• embryos die by E10 with pericardial effusion in 65% of embryos
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• OFTs are short or absent in 65% of embryos
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• heart tube is hypoplastic in 65% of embryos
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• 30% of the embryos born show transposition of the great arteries
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• there is a single dilated atrium in 65% of embryos
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• there is a single dilated ventricle in 65% of embryos
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• 40% of newborns also have a bicuspid aortic valve
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• 40% of newborns also have a bicuspid pulmonary valve
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• 35% of embryos survive but have small right ventricles at midgestation
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• embryos die by E10 with pericardial effusion in 65% of embryos
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• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle
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• at the 4 somite stage, mutants have 46% fewer proliferating cells in crescent mesoderm; this persisted to the 9 somite stage
• proliferating cells are decreased in the proximal outflow tract and pharyngeal epithelium at the 9 somite stage
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 25% of mutants have TGA and double outlet right ventricle
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• 25% of mutants have TGA and double outlet right ventricle
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no defects in outflow tract development are seen
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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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• increased ABR threshold at all test frequencies
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased ABR threshold at all test frequencies
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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 12/10/2024 MGI 6.24 |
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