Phenotypes associated with this allele

• Allele Symbol: Pdcd10^tm1Wami
• Allele Name: targeted mutation 1, Wang Min
• Allele ID: MGI:5002630
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lyz2^tm1(cre)Ifo/Lyz2^+ Pdcd10^tm1Wami/Pdcd10^tm1Wami	involves: 129 * 129P2/OlaHsd * C57BL/6	MGI:6158666
cn2	Pdcd10^tm1Wami/Pdcd10^tm1Wami Emx1^tm1(cre)Krj/Emx1^+	involves: 129 * 129S2/SvPas * C57BL/6	MGI:5002699
cn3	Pdcd10^tm1Wami/Pdcd10^tm1Wami Tagln^tm2(cre)Yec/Tagln^+	involves: 129 * 129S6/SvEvTac * C57BL/6	MGI:5002666
cn4	Pdcd10^tm1Wami/Pdcd10^tm1Wami Tg(Tek-cre)12Flv/0	involves: 129 * C3H * C57BL/6	MGI:5002664
cn5	Pdcd10^tm1Wami/Pdcd10^tm1Wami Tg(GFAP-cre)25Mes/0	involves: 129 * C57BL/6 * FVB/N	MGI:5002697
cn6	Pdcd10^tm1Wami/Pdcd10^tm1Wami Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5002665

Genotype
MGI:6158666

cn1

• Allelic Composition: Lyz2^tm1(cre)Ifo/Lyz2⁺; Pdcd10^tm1Wami/Pdcd10^tm1Wami
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6

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

hematopoietic system

abnormal neutrophil morphology ( J:256076 )

• increased degranulation

abnormal neutrophil physiology ( J:256076 )

• increased degranulation

homeostasis/metabolism

increased circulating creatinine level ( J:256076 )

• in serum after renal ischemia-reperfusion experiments

immune system

abnormal neutrophil morphology ( J:256076 )

• increased degranulation

abnormal neutrophil physiology ( J:256076 )

• increased degranulation

renal/urinary system

renal tubular necrosis ( J:256076 )

• after renal ischemia-reperfusion experiments

Genotype
MGI:5002699

cn2

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129 * 129S2/SvPas * C57BL/6

mortality/aging

mortality/aging ( J:170480 )

N • mice exhibit normal survival to adulthood

nervous system

abnormal brain vasculature morphology ( J:170480 )

• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice

increased brain size ( J:170480 )

astrocytosis ( J:170480 )

• starting in early postnatal stages

neoplasm

increased hemangioma incidence ( J:170480 )

• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice

cardiovascular system

abnormal brain vasculature morphology ( J:170480 )

• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice

Genotype
MGI:5002666

cn3

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Tagln^tm2(cre)Yec/Tagln⁺
• Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6

mortality/aging

mortality/aging ( J:171969 )

N • mice exhibit normal Mendelian ratio after weaning

cardiovascular system

cardiovascular system phenotype ( J:171969 )

N • mice exhibit normal retinal vascular development

Genotype
MGI:5002664

cn4

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: 129 * C3H * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:171969 )

• normal Mendelian ratios cannot be detected after E9.5

• no mice are present after E10.5

cardiovascular system

abnormal brain vasculature morphology ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the telencephalic plexus compared with wild-type mice

abnormal intersomitic vessel morphology ( J:171969 )

• intersomitic vessels are poorly organized and less branched compared to in wild-type mice

abnormal angiogenesis ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the yolk sac, telencephalic plexus, and intersomitic vasculature compared with wild-type mice

• angiogenesis is delayed compared to in wild-type mice

abnormal dorsal aorta morphology ( J:171969 )

• disorganized and discontinued

dilated dorsal aorta ( J:171969 )

abnormal developmental vascular remodeling ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the yolk sac, telencephalic plexus, and intersomitic vasculature compared with wild-type mice

abnormal vascular branching morphogenesis ( J:171969 )

abnormal cardinal vein morphology ( J:171969 )

• dilated, disorganized, and discontinued

abnormal vitelline vasculature morphology ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the yolk sac compared with wild-type mice

• the yolk sac contains fewer blood vessels compared to in wild-type mice

abnormal myocardium layer morphology ( J:171969 )

• the endocardium is dissociated from the myocardium unlike in wild-type mice

myocardial trabeculae hypoplasia ( J:171969 )

thin myocardium ( J:171969 )

abnormal endocardium morphology ( J:171969 )

• the endocardium is dissociated from the myocardium unlike in wild-type mice

enlarged pericardium ( J:171969 )

hematopoietic system

anemia ( J:171969 )

• at E8.5

impaired hematopoiesis ( J:171969 )

nervous system

nervous system phenotype ( J:171969 )

N • neural tube closure is normal

abnormal brain vasculature morphology ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the telencephalic plexus compared with wild-type mice

embryo

abnormal vitelline vasculature morphology ( J:171969 )

• mice exhibit abnormal angiogenesis and remodeling in the yolk sac compared with wild-type mice

• the yolk sac contains fewer blood vessels compared to in wild-type mice

abnormal vitelline vascular remodeling ( J:171969 )

muscle

abnormal myocardium layer morphology ( J:171969 )

• the endocardium is dissociated from the myocardium unlike in wild-type mice

myocardial trabeculae hypoplasia ( J:171969 )

thin myocardium ( J:171969 )

integument

pallor ( J:171969 )

• at E8.5

growth/size/body

microcephaly ( J:171969 )

Genotype
MGI:5002697

cn5

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

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

Genotype
MGI:5002665

cn6

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:171969 )

N • mice exhibit normal Mendelian ratio after birth

postnatal lethality, complete penetrance ( J:170480 )

• mice do not survive past P3

prenatal lethality, incomplete penetrance ( J:170480 )

• fewer than expected mice are born

nervous system

abnormal brain morphology ( J:170480 )

• abnormal cytoarchitecture

increased brain size ( J:170480 )