Phenotypes Associated with This Genotype

Genotype
MGI:5002697

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:170480 )

• mice do not survive beyond 12 months of age

postnatal lethality, incomplete penetrance ( J:170480 )

• 80% of rate die by 4 weeks

nervous system

abnormal brain morphology ( J:170480 )

• abnormal cytoarchitecture

abnormal brain vasculature morphology ( J:170480 )

• brain capillaries are dilated and less organized and dense than in control mice

• between 3 weeks and 12 months, two-thirds of mice develop cerebrovascular lesions resembling cavernomas unlike in control mice

hydrocephaly ( J:170480 )

• at 2 months

increased brain size ( J:170480 )

dilated brain ventricle ( J:170480 )

astrocytosis ( J:170480 )

• starting in early postnatal stages

• astrocyte proliferation is increased compared to in control cells

• astrocytes exhibit resistance to cycloheximide-induced apoptosis compared with control cells

• retinal astrocyte spreading is decreased compared to in control mice

cardiovascular system

abnormal brain vasculature morphology ( J:170480 )

• brain capillaries are dilated and less organized and dense than in control mice

• between 3 weeks and 12 months, two-thirds of mice develop cerebrovascular lesions resembling cavernomas unlike in control mice

abnormal vascular endothelial cell migration ( J:170480 )

• endothelial cell migration is delayed compared to in control mice

dilated vasculature ( J:170480 )

• brain capillaries

neoplasm

increased hemangioma incidence ( J:170480 )

• between 3 weeks and 12 months, two-thirds of mice develop cerebrovascular lesions resembling cavernomas unlike in control mice

• mice develop cavernomas in the spinal cord unlike wild-type mice

behavior/neurological

abnormal gait ( J:170480 )

• unsteady

circling ( J:170480 )

growth/size/body

decreased body weight ( J:170480 )

postnatal growth retardation ( J:170480 )

cellular

abnormal vascular endothelial cell migration ( J:170480 )

• endothelial cell migration is delayed compared to in control mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebral cavernous malformation 3		DOID:0060671	OMIM:603285	J:170480