Phenotypes associated with this allele

• Allele Symbol: Fgf8^tm1Moon
• Allele Name: targeted mutation 1, Anne M Moon
• Allele ID: MGI:2686864
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fgf8^tm1Mrc/Fgf8^tm1Moon Hoxa3^tm1(cre)Moon/Hoxa3^+	involves: 129/Sv * C57BL/6	MGI:2686877
cn2	Fgf8^tm1Mrc/Fgf8^tm1Moon Tfap2a^tm1(cre)Moon/Tfap2a^+	involves: 129/Sv * C57BL/6	MGI:2686875
cn3	Fgf10^tm1Ska/Fgf10^+ Fgf8^tm1Moon/Fgf8^tm1Moon Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5661384
cn4	Fgf8^tm1Moon/Fgf8^tm1Moon Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5661382
cn5	Fgf10^tm1Ska/Fgf10^tm1Ska Fgf8^tm1Moon/Fgf8^tm1Moon Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5661383

Genotype
MGI:2686877

cn1

• Allelic Composition: Fgf8^tm1Mrc/Fgf8^tm1Moon; Hoxa3^tm1(cre)Moon/Hoxa3⁺
• Genetic Background: involves: 129/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:87304 )

• 30% die during the neonatal period because of lethal cardiovascular malformations

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:87304 )

• exhibit pharyngeal arch artery defects

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• defect in vascular tube formation in the fourth pharyngeal arch

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

abnormal truncus arteriosus septation ( J:87304 )

• only 1 of 33 have severe perturbation of outflow tract septation and alignment (Tetralogy of Fallot and BAV)

abnormal coronary vessel morphology ( J:87304 )

• coronary vascular defects

bicuspid aortic valve ( J:87304 )

• 23% exhibit bicuspid aortic valves

hematopoietic system

thymus hypoplasia ( J:87304 )

• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia

ectopic thymus ( J:87304 )

endocrine/exocrine glands

abnormal parathyroid gland morphology ( J:87304 )

• parathyroid ectopy, hypoplasia, and aplasia

absent parathyroid glands ( J:87304 )

• aplasia

ectopic parathyroid gland ( J:87304 )

parathyroid hypoplasia ( J:87304 )

thymus hypoplasia ( J:87304 )

• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia

ectopic thymus ( J:87304 )

immune system

thymus hypoplasia ( J:87304 )

• exhibit thymic hypoplasia, however do not see bilateral thymic aplasia

ectopic thymus ( J:87304 )

craniofacial

abnormal pharyngeal arch artery morphology ( J:87304 )

• exhibit pharyngeal arch artery defects

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• defect in vascular tube formation in the fourth pharyngeal arch

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

embryo

abnormal pharyngeal arch artery morphology ( J:87304 )

• exhibit pharyngeal arch artery defects

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• defect in vascular tube formation in the fourth pharyngeal arch

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8

cellular

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhomobomeres 6-8

Genotype
MGI:2686875

cn2

• Allelic Composition: Fgf8^tm1Mrc/Fgf8^tm1Moon; Tfap2a^tm1(cre)Moon/Tfap2a⁺
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:87304 )

• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants

prenatal lethality, incomplete penetrance ( J:87304 )

• 25% die prior to birth

cardiovascular system

abnormal blood vessel morphology ( J:87304 )

• 30% show lethal vascular defects, however outflow tract development is normal

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 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

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

interrupted aortic arch, type b ( J:87304 )

• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)

right aortic arch ( J:87304 )

• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus

abnormal coronary artery morphology ( J:87304 )

• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects

abnormal subclavian artery morphology ( J:87304 )

• subclavian artery anomalies

retroesophageal right subclavian artery ( J:87304 )

• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects

craniofacial

abnormal craniofacial morphology ( J:87304 )

• 100% show severe craniofacial malformations

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 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

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

embryo

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 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

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

cellular

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

Genotype
MGI:5661384

cn3

• Allelic Composition: Fgf10^tm1Ska/Fgf10⁺; Fgf8^tm1Moon/Fgf8^tm1Moon; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

cardiovascular system

abnormal aortic arch morphology ( J:170879 )

• narrow

aberrant origin of the right subclavian artery ( J:170879 )

right aortic arch ( J:170879 )

abnormal common carotid artery morphology ( J:170879 )

• absence of the left common carotid artery in some mice

abnormal cardiovascular development ( J:170879 )

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

abnormal cardiac outflow tract development ( J:170879 )

• hypomorphic at E9.5

• more severe than in mutant mice wild-type for Fgf10

double outlet right ventricle ( J:170879 )

• more frequent than in mutant mice wild-type for Fgf10

ventricular septal defect ( J:170879 )

• more frequent than in mutant mice wild-type for Fgf10

decreased heart right ventricle size ( J:170879 )

• hypomorphic at E9.5

• more severe than in mutant mice wild-type for Fgf10

craniofacial

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

second pharyngeal arch hypoplasia ( J:170879 )

third pharyngeal arch hypoplasia ( J:170879 )

embryo

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

second pharyngeal arch hypoplasia ( J:170879 )

third pharyngeal arch hypoplasia ( J:170879 )

Genotype
MGI:5661382

cn4

• Allelic Composition: Fgf8^tm1Moon/Fgf8^tm1Moon; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

cardiovascular system

aberrant origin of the right subclavian artery ( J:170879 )

right aortic arch ( J:170879 )

abnormal common carotid artery morphology ( J:170879 )

• absence of the left common carotid artery in some mice

abnormal cardiovascular development ( J:170879 )

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

abnormal cardiac epithelial to mesenchymal transition ( J:170879 )

• impaired at E10.5

abnormal cardiac outflow tract development ( J:170879 )

• hypomorphic at E9.5

double outlet right ventricle ( J:170879 )

ventricular septal defect ( J:170879 )

decreased heart right ventricle size ( J:170879 )

• hypomorphic at E9.5

craniofacial

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

cellular

abnormal cardiac neural crest cell migration ( J:170879 )

• compromised invasion of the outflow tract at E10.5

embryo

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

abnormal cardiac neural crest cell migration ( J:170879 )

• compromised invasion of the outflow tract at E10.5

Genotype
MGI:5661383

cn5

• Allelic Composition: Fgf10^tm1Ska/Fgf10^tm1Ska; Fgf8^tm1Moon/Fgf8^tm1Moon; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

cardiovascular system

abnormal aortic arch morphology ( J:170879 )

• narrow

aberrant origin of the right subclavian artery ( J:170879 )

abnormal common carotid artery morphology ( J:170879 )

• absence of the left common carotid artery in some mice

abnormal cardiovascular development ( J:170879 )

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

abnormal cardiac epithelial to mesenchymal transition ( J:170879 )

• impaired at E10.5

abnormal cardiac outflow tract development ( J:170879 )

• hypomorphic at E9.5

• more severe than in mutant mice wild-type for Fgf10

• smaller and misshapen at E10.5

double outlet right ventricle ( J:170879 )

• more frequent than in mutant mice wild-type for Fgf10

ventricular septal defect ( J:170879 )

• more frequent than in mutant mice wild-type for Fgf10

decreased heart right ventricle size ( J:170879 )

• hypomorphic at E9.5

• more severe than in mutant mice wild-type for Fgf10

craniofacial

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

second pharyngeal arch hypoplasia ( J:170879 )

third pharyngeal arch hypoplasia ( J:170879 )

cellular

abnormal cardiac neural crest cell migration ( J:170879 )

• compromised invasion of the outflow tract at E10.5

embryo

abnormal pharyngeal arch artery morphology ( J:170879 )

• various defects are detected at E10.5, including missing third, fourth and sixth PAAs and retention of the second PAA

• incidence of defects is increased compared to mutant mice wild-type for Fgf10

abnormal fourth pharyngeal arch artery morphology ( J:170879 )

abnormal sixth pharyngeal arch artery morphology ( J:170879 )

abnormal third pharyngeal arch artery morphology ( J:170879 )

abnormal cardiac neural crest cell migration ( J:170879 )

• compromised invasion of the outflow tract at E10.5

second pharyngeal arch hypoplasia ( J:170879 )

third pharyngeal arch hypoplasia ( J:170879 )