Phenotypes associated with this allele

• Allele Symbol: Pdcd10^tm1Kwhi
• Allele Name: targeted mutation 1, Kevin Whitehead
• Allele ID: MGI:5052183
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi Nfatc1^tm1.1(cre)Bz/Nfatc1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:6279290
cn2	Pdcd10^tm1Kwhi/Pdcd10^tm1.1Kwhi Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/?	involves: C57BL/6 * CBA	MGI:5052328
cn3	Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi Tg(Tek-cre)1Ywa/?	involves: C57BL/6 * SJL	MGI:5052326
cn4	Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi Tg(Nes-cre)1Kln/?	involves: C57BL/6 * SJL	MGI:5052327

Genotype
MGI:6279290

cn1

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi; Nfatc1^tm1.1(cre)Bz/Nfatc1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:238897 )

• embryonic lethality, with all fetuses dead by E15.5-E17.5

cardiovascular system

thin myocardium ( J:238897 )

• embryos exhibit a reduction in myocardial growth at E12.5

abnormal cardiac jelly morphology ( J:238897 )

• embryos exhibit reduced cardiac jelly at E12.5 as indicated by reduced matrix glycosaminoglycans and versican in the heart

muscle

thin myocardium ( J:238897 )

• embryos exhibit a reduction in myocardial growth at E12.5

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 )

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

• 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

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

Genotype
MGI:5052326

cn3

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:173947 )

• death due to venous rupture by E13.5

cardiovascular system

cardiovascular system phenotype ( J:173947 )

N • open branchial arch arteries and developed circulatory system at E9.5

abnormal cardinal vein morphology ( J:173947 )

• progressive enlargement of the cardinal vein until E11.5

• death due to venous rupture by E13.5

Genotype
MGI:5052327

cn4

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:173947 )

• born alive with no obvious defects when the conditional deletion occurs in neural and glial tissue