Phenotypes associated with this allele

• Allele Symbol: Casp8^tm1Syon
• Allele Name: targeted mutation 1, S Yonehara
• Allele ID: MGI:3609638
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Casp8^tm1Syon/Casp8^tm1Syon	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3615376
cx2	Casp8^tm1Syon/Casp8^tm1Syon Tg(Myh7-BVp35-EGFP)#Ksa/?	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6	MGI:3615623

Genotype
MGI:3615376

hm1

• Allelic Composition: Casp8^tm1Syon/Casp8^tm1Syon
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:103506 )

• homozygous mutant embryos were detected in the expected Mendelian ratio until E10.5

• all homozygous mutant embryos at later timepoints (E11.5 to E14.5) died accompanying with abnormal phenotypes

cardiovascular system

abnormal heart morphology ( J:103506 )

• the main muscular framework of the heart had undergone lysis causing cardiac rapture in E11.5 mutant embryos

• no cardiac rapture was observed in E10.5 mutant embryos

• whole embryo culture during E10.5-E11.5 prevented cardiac rapture phenotype

hemopericardium ( J:103506 )

• most E11.5 mutant embryos displayed signs of abdominal hemorrhage caused by an efflux of blood cells into the pericardial cavity

muscle

increased cardiomyocyte apoptosis ( J:103506 )

• in E11.5 mutant embryos, the lytic changes in heart was due to apoptosis of cardiomyocytes

• no cardiomyocyte apoptosis was observed in E10.5 mutant embryos

• no apoptosis was observed in E11.5 mutant embryos in tissues other than the heart

• whole embryo culture during E10.5-E11.5 prevented cardiomyocyte apoptosis phenotype

embryo

kinked neural tube ( J:103506 )

• the neural tubes of E11.5 mutant embryos displayed a kink-like irregular pattern

• whole embryo culture during E10.5-E11.5 prevented abnormal neural tube phenotype

pale yolk sac ( J:103506 )

abnormal embryonic hematopoiesis ( J:103506 )

• E11.5 mutant yolk sac vessels contained far fewer blood cells than control

abnormal vitelline vascular remodeling ( J:103506 )

• the yolk sac of the E11.5 mutant embryos displays underdeveloped vasculature

• the yolk sac of the E10.5 mutant embryos exhibited the honey comb-like primary capillary plexus without advanced vascular network seen in the control

• eventually, regression of vessels was observed in the E11.5 mutant yolk sac

• no abnormality in the vascular system of embryos proper was found

hematopoietic system

abnormal embryonic hematopoiesis ( J:103506 )

• E11.5 mutant yolk sac vessels contained far fewer blood cells than control

nervous system

kinked neural tube ( J:103506 )

• the neural tubes of E11.5 mutant embryos displayed a kink-like irregular pattern

• whole embryo culture during E10.5-E11.5 prevented abnormal neural tube phenotype

homeostasis/metabolism

hemopericardium ( J:103506 )

• most E11.5 mutant embryos displayed signs of abdominal hemorrhage caused by an efflux of blood cells into the pericardial cavity

cellular

increased cardiomyocyte apoptosis ( J:103506 )

• in E11.5 mutant embryos, the lytic changes in heart was due to apoptosis of cardiomyocytes

• no cardiomyocyte apoptosis was observed in E10.5 mutant embryos

• no apoptosis was observed in E11.5 mutant embryos in tissues other than the heart

• whole embryo culture during E10.5-E11.5 prevented cardiomyocyte apoptosis phenotype

Genotype
MGI:3615623

cx2

• Allelic Composition: Casp8^tm1Syon/Casp8^tm1Syon; Tg(Myh7-BVp35-EGFP)#Ksa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:102279 )

• mutant embryos with transgene expression could not survive to E12.5 of development

cardiovascular system

cardiovascular system phenotype ( J:102279 )

N • mutant embryos expressing the transgene underwent normal trabeculae formation, whereas trabeculae degeneration occurred in homozygous mutant without the transgene expression

abnormal vitelline vasculature morphology ( J:102279 )

• irregular yolk sac angiogenesis is observed

hemopericardium ( J:102279 )

• at stage E10.5, most (74%) of the mutant embryos expressing the transgene did not show hemorrhage

• the majority of mutant embryos without the transgene expression had hemorrhage at stage E10.5

• mutant embryos exhibited hemorrhage in the pericardial cavity when they further developed from E10.5 to E11.0- E11.5

muscle

increased cardiomyocyte apoptosis ( J:102279 )

• in E11.0-11.5 mutant embryos, TUNEL-positive cells localized to the compact area, but not trabeculae of the ventricle were detected

embryo

abnormal vitelline vasculature morphology ( J:102279 )

• irregular yolk sac angiogenesis is observed

abnormal neural tube morphology ( J:102279 )

• aberrant neural tube development is observed

nervous system

abnormal neural tube morphology ( J:102279 )

• aberrant neural tube development is observed

homeostasis/metabolism

hemopericardium ( J:102279 )

• at stage E10.5, most (74%) of the mutant embryos expressing the transgene did not show hemorrhage

• the majority of mutant embryos without the transgene expression had hemorrhage at stage E10.5

• mutant embryos exhibited hemorrhage in the pericardial cavity when they further developed from E10.5 to E11.0- E11.5

cellular

increased cardiomyocyte apoptosis ( J:102279 )

• in E11.0-11.5 mutant embryos, TUNEL-positive cells localized to the compact area, but not trabeculae of the ventricle were detected