Phenotypes associated with this allele

• Allele Symbol: Fgf8^tm2Moon
• Allele Name: targeted mutation 2, Anne M Moon
• Allele ID: MGI:3639320
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fgf8^tm2Moon/Fgf8^tm1Mrc Isl1^tm1(cre)Sev/Isl1^+	involves: 129S/Sv	MGI:3639731
cn2	Fgf8^tm1Mrc/Fgf8^tm2Moon Isl1^tm1(cre)Sev/Isl1^+	involves: 129S/Sv * Black Swiss * C57BL/6	MGI:3829040
cn3	Fgf8^tm2Moon/Fgf8^tm1Mrc Mesp1^tm2(cre)Ysa/Mesp1^+	involves: C57BL/6 * CBA	MGI:3639730
cn4	Fgf8^tm1Mrc/Fgf8^tm2Moon Foxa2^tm2.1(cre/Esr1*)Moon/Foxa2^+	Not Specified	MGI:3829041
cn5	Fgf8^tm2Moon/Fgf8^tm1Mrc Tg(Mef2c-cre)2Blk/0	Not Specified	MGI:3639738

Genotype
MGI:3639731

cn1

• Allelic Composition: Fgf8^tm2Moon/Fgf8^tm1Mrc; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129S/Sv

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:109475 )

• severely affected mutants (35%) die by E10; most (65%) survive to birth

embryo

small pharyngeal arch ( J:109475 )

• at E8.75 -10.5, surviving mutants have small pharyngeal arches

cellular

increased apoptosis ( J:109475 )

• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle

cardiovascular system

abnormal truncus arteriosus septation ( J:109475 )

• conotruncal cushions are hypocellular compared to controls; fusion of cushions to form AP septum is delayed in mutants

persistent truncus arteriosus ( J:109475 )

• 100% of E18.5/newborns have PTA

abnormal heart right ventricle morphology ( J:109475 )

• at E8.75 -10.5, surviving mutants have severe right ventricle hypoplasia

craniofacial

small pharyngeal arch ( J:109475 )

• at E8.75 -10.5, surviving mutants have small pharyngeal arches

Genotype
MGI:3829040

cn2

• Allelic Composition: Fgf8^tm1Mrc/Fgf8^tm2Moon; Isl1^tm1(cre)Sev/Isl1⁺
• Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:143444 )

• in explants no cells manage to successfully undergo endothelial to mesenchymal transformation

abnormal cardiac outflow tract development ( J:143444 )

• outflow tracts are short and abnormally angulated

abnormal conotruncal ridge morphology ( J:143444 )

• 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

persistent truncus arteriosus ( J:143444 )

• all show type III PTA (the outflow tract is unseptated along its entire proximodstal extent)

Genotype
MGI:3639730

cn3

• Allelic Composition: Fgf8^tm2Moon/Fgf8^tm1Mrc; Mesp1^tm2(cre)Ysa/Mesp1⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:109475 )

• severely affected Fgf8-deficient embryos (65%) die by E10

homeostasis/metabolism

pericardial effusion ( J:109475 )

• embryos die by E10 with pericardial effusion in 65% of embryos

edema ( J:109475 )

• embryos die by E10 with generalized edema in 65% of embryos

cardiovascular system

abnormal cardiac outflow tract development ( J:109475 )

• OFTs are short or absent in 65% of embryos

abnormal heart tube morphology ( J:109475 )

• heart tube is hypoplastic in 65% of embryos

transposition of great arteries ( J:109475 )

• 30% of the embryos born show transposition of the great arteries

common atrium ( J:109475 )

• there is a single dilated atrium in 65% of embryos

common ventricle ( J:109475 )

• there is a single dilated ventricle in 65% of embryos

bicuspid aortic valve ( J:109475 )

• 40% of newborns also have a bicuspid aortic valve

bicuspid pulmonary valve ( J:109475 )

• 40% of newborns also have a bicuspid pulmonary valve

decreased heart right ventricle size ( J:109475 )

• 35% of embryos survive but have small right ventricles at midgestation

pericardial effusion ( J:109475 )

• embryos die by E10 with pericardial effusion in 65% of embryos

cellular

increased apoptosis ( J:109475 )

• excess apoptotic cells are detected at the 7-9 somite stage in ventral endoderm and adjacent smooth muscle

decreased cell proliferation ( J:109475 )

• 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

Genotype
MGI:3829041

cn4

• Allelic Composition: Fgf8^tm1Mrc/Fgf8^tm2Moon; Foxa2^{tm2.1(cre/Esr1*)Moon}/Foxa2⁺
• Genetic Background: Not Specified

cardiovascular system

cardiovascular system phenotype ( J:143444 )

N • no defects in outflow tract development are seen

Genotype
MGI:3639738

cn5

• Allelic Composition: Fgf8^tm2Moon/Fgf8^tm1Mrc; Tg(Mef2c-cre)2Blk/0
• Genetic Background: Not Specified

cardiovascular system

double outlet right ventricle ( J:109475 )

• 25% of mutants have TGA and double outlet right ventricle

transposition of great arteries ( J:109475 )

• 25% of mutants have TGA and double outlet right ventricle