Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
|
|
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm3Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
|
|
|
mortality/aging
|
|
• 100% die in the neonatal period
|
growth/size/body
cardiovascular system
|
|
• hypoplastic third pharyngeal arch artery
|
|
|
• severe cardiac outflow tract septation and alignment defects
|
craniofacial
|
|
• hypoplastic third pharyngeal arch artery
|
embryo
|
|
• hypoplastic third pharyngeal arch artery
|
|
|
• 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
|
homeostasis/metabolism
cellular
|
|
• 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
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
|
|
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Moon mutation
(0 available);
any
Fgf8 mutation
(18 available)
Isl1tm1(cre)Sev mutation
(1 available);
any
Isl1 mutation
(33 available)
|
|
|
mortality/aging
|
|
• severely affected mutants (35%) die by E10; most (65%) survive to birth
|
embryo
|
|
• at E8.75 -10.5, surviving mutants have small pharyngeal arches
|
cellular
|
|
• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle
|
cardiovascular system
|
|
• conotruncal cushions are hypocellular compared to controls; fusion of cushions to form AP septum is delayed in mutants
|
|
|
• 100% of E18.5/newborns have PTA
|
|
|
• at E8.75 -10.5, surviving mutants have severe right ventricle hypoplasia
|
craniofacial
|
|
• at E8.75 -10.5, surviving mutants have small pharyngeal arches
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Moon mutation
(0 available);
any
Fgf8 mutation
(18 available)
Isl1tm1(cre)Sev mutation
(1 available);
any
Isl1 mutation
(33 available)
|
|
|
cardiovascular system
|
|
• in explants no cells manage to successfully undergo endothelial to mesenchymal transformation
|
|
|
• outflow tracts are short and abnormally angulated
|
|
|
• 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
|
|
|
• all show type III PTA (the outflow tract is unseptated along its entire proximodstal extent)
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Hoxa3tm1(cre)Moon mutation
(1 available);
any
Hoxa3 mutation
(24 available)
|
|
|
mortality/aging
|
|
• 30% die during the neonatal period because of lethal cardiovascular malformations
|
cardiovascular system
|
|
• 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
|
hematopoietic system
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
endocrine/exocrine glands
|
|
• parathyroid ectopy, hypoplasia, and aplasia
|
|
|
• parathyroid gland aplasia
|
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
immune system
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
craniofacial
|
|
• pharyngeal arch artery defects
|
|
|
• defect in vascular tube formation in the fourth pharyngeal arch
|
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
embryo
|
|
• 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
|
cellular
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
|
mortality/aging
|
|
• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
|
cardiovascular system
|
|
• 30% show lethal vascular defects, however outflow tract development is normal
|
|
|
• 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
|
|
|
• 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
|
craniofacial
|
|
• 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
|
embryo
|
|
• 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
|
cellular
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Tfap2atm1(cre)Moon mutation
(1 available);
any
Tfap2a mutation
(39 available)
|
|
|
mortality/aging
|
|
• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
|
cardiovascular system
|
|
• 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
|
|
|
• 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
|
|
|
• 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
|
craniofacial
|
|
• 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
|
embryo
|
|
• 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
|
cellular
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
|
mortality/aging
|
|
• 30% die during the neonatal period because of lethal cardiovascular malformations
|
cardiovascular system
|
|
• 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
|
hematopoietic system
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
endocrine/exocrine glands
|
|
• parathyroid ectopy, hypoplasia, and aplasia
|
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
immune system
|
|
• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia
|
craniofacial
|
|
• exhibit pharyngeal arch artery defects
|
|
|
• defect in vascular tube formation in the fourth pharyngeal arch
|
|
|
• exhibit an abnormally large third pharyngeal arch artery
|
embryo
|
|
• 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
|
cellular
|
|
• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Moon mutation
(0 available);
any
Fgf8 mutation
(18 available)
Mesp1tm2(cre)Ysa mutation
(1 available);
any
Mesp1 mutation
(17 available)
|
|
|
mortality/aging
|
|
• severely affected Fgf8-deficient embryos (65%) die by E10
|
homeostasis/metabolism
cardiovascular system
|
|
• OFTs are short or absent in 65% of embryos
|
|
|
• heart tube is hypoplastic in 65% of embryos
|
|
|
• 30% of the embryos born show transposition of the great arteries
|
|
|
• there is a single dilated atrium in 65% of embryos
|
|
|
• there is a single dilated ventricle in 65% of embryos
|
|
|
• 40% of newborns also have a bicuspid aortic valve
|
|
|
• 40% of newborns also have a bicuspid pulmonary valve
|
|
|
• 35% of embryos survive but have small right ventricles at midgestation
|
|
|
• embryos die by E10 with pericardial effusion in 65% of embryos
|
cellular
|
|
• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle
|
|
|
• 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
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Moon mutation
(0 available);
any
Fgf8 mutation
(18 available)
Tg(Mef2c-cre)2Blk mutation
(1 available)
|
|
|
cardiovascular system
|
|
• 25% of mutants have TGA and double outlet right ventricle
|
|
|
• 25% of mutants have TGA and double outlet right ventricle
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Moon mutation
(0 available);
any
Fgf8 mutation
(18 available)
Foxa2tm2.1(cre/Esr1*)Moon mutation
(1 available);
any
Foxa2 mutation
(26 available)
|
|
|
cardiovascular system
|
N |
• no defects in outflow tract development are seen
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf8tm2Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Tg(Rarb-cre)1Mrc mutation
(1 available)
|
|
|
limbs/digits/tail
skeleton
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgfr3tm1.1Aomw mutation
(4 available);
any
Fgfr3 mutation
(52 available)
|
|
|
hearing/vestibular/ear
|
|
• increased ABR threshold at all test frequencies
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm1Mrc mutation
(0 available);
any
Fgf8 mutation
(18 available)
Fgf9tm1Dor mutation
(0 available);
any
Fgf9 mutation
(15 available)
Fgfr3tm1.1Aomw mutation
(4 available);
any
Fgfr3 mutation
(52 available)
|
|
|
hearing/vestibular/ear
|
|
• increased ABR threshold at all test frequencies
|
Analysis Tools