Phenotypes Associated with This Genotype

Genotype
MGI:3531418

• Allelic Composition: Aph1a^tm1.1Bdes/Aph1a^tm1.1Bdes
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Impaired vascular development and mild somitogenesis defects in Aph1a^tm1.1Bdes/Aph1a^tm1.1Bdes mice

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:96106 )

• viable homozygous null embryos were found up to E10.5 but never thereafter

cardiovascular system

abnormal vascular branching morphogenesis ( J:96106 )

• caliber irregularities and patterning defects in the intersomitic aortic branches

• absence of an organized vascular tree in the yolk sac at E10.5

distended pericardium ( J:96106 )

• homozygous null embryos inconsistently show distended pericardial sacs and exhibit correct heart looping

embryo

abnormal mesoderm development ( J:96106 )

• some regions of the mesoderm surrounding the neuroepithelium contained cells with pyknotic nuclei or extensive blebbing, indicating apoptosis

abnormal rostral-caudal axis patterning ( J:96106 )

• E10.5 homozygous null embryos develop a body axis that extends well beyond the hindlimb bud but remains thin caudal to the fore limb bud

decreased embryo size ( J:96106 )

• from E9.5, homozygous null embryos were smaller and moderately shorter than wildtype

abnormal embryonic neuroepithelium morphology ( J:96106 )

• the strictly radial orientation of the neuroepithelial cells of the neural tube is severely disturbed and numerous cells emigrate into the surrounding mesoderm

kinked neural tube ( J:96106 )

• from E8.5 on, observed neural tube kinking

abnormal somite development ( J:96106 )

• intersomitic sulci are less prominent than in wildtype

abnormal somite shape ( J:96106 )

• somites featured a shallow, less regular external contour bulging beneath the surface ectoderm, sometimes appearing collapsed

decreased somite size ( J:96106 )

• somites were smaller than in wildtype

abnormal vitelline vascular remodeling ( J:96106 )

• homozygous null embryos fail to develop an organized vascular system in the yolk sac, exhibiting only isolated blood forming islands and short Y-shaped vascular profiles and the absence of an organized vascular tree at E10.5

growth/size/body

decreased embryo size ( J:96106 )

• from E9.5, homozygous null embryos were smaller and moderately shorter than wildtype

muscle

abnormal dermomyotome development ( J:96106 )

• less well organized dermatomyotome

nervous system

increased embryonic neuroepithelium apoptosis ( J:96106 )

• cells with pyknotic nuclei and extensive surface blebbing, indicative of apoptosis, are found in regions of the neuroepithelium

abnormal embryonic neuroepithelium morphology ( J:96106 )

• the strictly radial orientation of the neuroepithelial cells of the neural tube is severely disturbed and numerous cells emigrate into the surrounding mesoderm

kinked neural tube ( J:96106 )

• from E8.5 on, observed neural tube kinking

abnormal telencephalon development ( J:96106 )

• from E9.5 on, the growth of the telencephalon anlage is visibly retarded, evidenced by either absent or hypoplastic hemispheric vesicles

skeleton

abnormal sclerotome morphology ( J:96106 )

• homozygous null embryos exhibit a high proportion of apoptotic cells in the sclerotome

cellular

increased embryonic neuroepithelium apoptosis ( J:96106 )

• cells with pyknotic nuclei and extensive surface blebbing, indicative of apoptosis, are found in regions of the neuroepithelium