Phenotypes Associated with This Genotype

Genotype
MGI:2686877

• 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