Phenotypes Associated with This Genotype

Genotype
MGI:5052328

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1.1Kwhi; Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/?
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

postnatal lethality ( J:173947 )

• increased early mortality

cardiovascular system

abnormal brain vasculature morphology ( J:173947 )

• cerebral cavernous malformations develop by one month after tamoxifen treatment at 1 day of age

• additional abnormalities include capillary telangiectasias, isolated caverns and multiple back to back caverns, thrombosis, hemorrhage, formation of secondary channels

• attenuation of endothelial cells in larger secondary channels but no gaps

abnormal pericyte morphology ( J:173947 )

• foot processes are missing

nervous system

abnormal brain vasculature morphology ( J:173947 )

• cerebral cavernous malformations develop by one month after tamoxifen treatment at 1 day of age

• additional abnormalities include capillary telangiectasias, isolated caverns and multiple back to back caverns, thrombosis, hemorrhage, formation of secondary channels

• attenuation of endothelial cells in larger secondary channels but no gaps

abnormal astrocyte morphology ( J:173947 )

• foot processes are missing

CNS inflammation ( J:173947 )

• foci of mononuclear inflammatory cells also seen

immune system

CNS inflammation ( J:173947 )

• foci of mononuclear inflammatory cells also seen

cellular

abnormal astrocyte morphology ( J:173947 )

• foot processes are missing

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebral cavernous malformation 3		DOID:0060671	OMIM:603285	J:173947