Analysis Tools|
Allele Symbol Allele Name Allele ID |
Fgf8tm2Mrc targeted mutation 2, Mario R Capecchi MGI:2150351 |
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| Summary |
5 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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| ♀ | 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
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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 |
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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 |
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 11/12/2024 MGI 6.24 |
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