Phenotypes Associated with This Genotype

Genotype
MGI:6415690

• Allelic Composition: Flvcr2^tm1.2Tda/Flvcr2^tm1.2Tda
• Genetic Background: involves: C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:287134 )

• pups only survive a few hours after birth with signs of severe hypoxia

cardiovascular system

cardiovascular system phenotype ( J:287134 )

N • mice exhibit normal blood brain barrier function

abnormal brain vasculature morphology ( J:287134 )

• in the median and lateral ganglionic eminences at E15.5

• progressive hypoplastic periventricular vessels from E14.5 to E18.5

• reduced area of the brain periventricular parenchyma covered by vessels and dilated vascular tubes with clumping of endothelial nuclei within vessel walls

• however, periventricular vessels are normal at E12.5

brain vascular congestion ( J:287134 )

• dilated vascular tubes with clumping of endothelial nuclei within vessel walls

abnormal pericyte morphology ( J:287134 )

• slightly reduced pericyte coverage in the brain at E18.5

• however, coverage is normal at E12.5 and E14.5

abnormal vascular development ( J:287134 )

• stalled periventricular blood vessels ingression toward the ventricular zone forming a vascular plexus

decreased angiogenesis ( J:287134 )

• in the brain

• endothelial cells exhibit reduced and length of filopodia at E 12.5 and E14.5 at vascular fronts compared with control cells

nervous system

abnormal brain vasculature morphology ( J:287134 )

• in the median and lateral ganglionic eminences at E15.5

• progressive hypoplastic periventricular vessels from E14.5 to E18.5

• reduced area of the brain periventricular parenchyma covered by vessels and dilated vascular tubes with clumping of endothelial nuclei within vessel walls

• however, periventricular vessels are normal at E12.5

brain vascular congestion ( J:287134 )

• dilated vascular tubes with clumping of endothelial nuclei within vessel walls

brain inflammation ( J:287134 )

• accumulation of myeloid cells in the brain at E18 secondary to alterations

enlarged brain ventricles ( J:287134 )

• at E18.5

brain ischemia ( J:287134 )

• with massive cell death in the ventral parts of the brain at E18.5

• however, few apoptotic endothelial cells in the brain

homeostasis/metabolism

cyanosis ( J:287134 )

• at birth

hypoxia ( J:287134 )

• in the brain due to impaired vascularization

behavior/neurological

bradykinesia ( J:287134 )

• at birth

cellular

decreased endothelial cell proliferation ( J:287134 )

• at E14.5 in the ganglionic eminences

• however, proliferation at E12.5 is normal

immune system

brain inflammation ( J:287134 )

• accumulation of myeloid cells in the brain at E18 secondary to alterations

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		DOID:0111666	OMIM:225790	J:287134