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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgf8tm2Mrc
targeted mutation 2, Mario R Capecchi
MGI:2150351
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgf8tm2Mrc/Fgf8tm2Mrc Not Specified MGI:2176854
ht2
Fgf8tm1Mrc/Fgf8tm2Mrc Not Specified MGI:2176853
cn3
Fgf8tm1Mrc/Fgf8tm2Mrc
Tfap2atm1(cre)Moon/Tfap2a+
involves: 129/Sv * C57BL/6 MGI:2686873
cn4
Fgf8tm1Mrc/Fgf8tm2Mrc
Hoxa3tm1(cre)Moon/Hoxa3+
involves: 129/Sv * C57BL/6 MGI:2686876
cn5
Fgf8tm1Mrc/Fgf8tm2Mrc
Tg(Rarb-cre)1Mrc/0
Not Specified MGI:2176855


Genotype
MGI:2176854
hm1
Allelic
Composition
Fgf8tm2Mrc/Fgf8tm2Mrc
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8tm2Mrc mutation (0 available); any Fgf8 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2176853
ht2
Allelic
Composition
Fgf8tm1Mrc/Fgf8tm2Mrc
Genetic
Background
Not Specified
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2686873
cn3
Allelic
Composition
Fgf8tm1Mrc/Fgf8tm2Mrc
Tfap2atm1(cre)Moon/Tfap2a+
Genetic
Background
involves: 129/Sv * C57BL/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)
Tfap2atm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
• 25% die prior to birth

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




Genotype
MGI:2686876
cn4
Allelic
Composition
Fgf8tm1Mrc/Fgf8tm2Mrc
Hoxa3tm1(cre)Moon/Hoxa3+
Genetic
Background
involves: 129/Sv * C57BL/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)
Hoxa3tm1(cre)Moon mutation (1 available); any Hoxa3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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




Genotype
MGI:2176855
cn5
Allelic
Composition
Fgf8tm1Mrc/Fgf8tm2Mrc
Tg(Rarb-cre)1Mrc/0
Genetic
Background
Not Specified
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)
phenotype observed in females
phenotype observed in males
N normal phenotype




Contributing Projects:
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
05/07/2024
MGI 6.23
The Jackson Laboratory