Phenotypes associated with this allele

• Allele Symbol: Pdcd10^tm1.1Kwhi
• Allele Name: targeted mutation 1.1, Kevin Whitehead
• Allele ID: MGI:5052184
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdcd10^tm1.1Kwhi/Pdcd10^tm1.1Kwhi	involves: C57BL/6	MGI:5052325
cn2	Pdcd10^tm1Kwhi/Pdcd10^tm1.1Kwhi Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/?	involves: C57BL/6 * CBA	MGI:5052328

Genotype
MGI:5052325

hm1

• Allelic Composition: Pdcd10^tm1.1Kwhi/Pdcd10^tm1.1Kwhi
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:173947 )

embryo

embryonic growth arrest ( J:173947 )

• growth arrest at E8.0 after gastrulation but prior to establishment of circulation

Genotype
MGI:5052328

cn2

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

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

CNS inflammation ( J:173947 )

• foci of mononuclear inflammatory cells also seen

abnormal astrocyte morphology ( J:173947 )

• foot processes are missing

immune system

CNS inflammation ( J:173947 )

• foci of mononuclear inflammatory cells also seen

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