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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Aph1atm1.1Bdes
targeted mutation 1.1, Bart De Strooper
MGI:3530440
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Aph1atm1.1Bdes/Aph1atm1.1Bdes involves: 129P2/OlaHsd * C57BL/6J MGI:3531418


Genotype
MGI:3531418
hm1
Allelic
Composition
Aph1atm1.1Bdes/Aph1atm1.1Bdes
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aph1atm1.1Bdes mutation (0 available); any Aph1a mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Impaired vascular development and mild somitogenesis defects in Aph1atm1.1Bdes/Aph1atm1.1Bdes mice

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

cardiovascular system
• caliber irregularities and patterning defects in the intersomitic aortic branches
• absence of an organized vascular tree in the yolk sac at E10.5
• homozygous null embryos inconsistently show distended pericardial sacs and exhibit correct heart looping

embryo
• some regions of the mesoderm surrounding the neuroepithelium contained cells with pyknotic nuclei or extensive blebbing, indicating apoptosis
• 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
• from E9.5, homozygous null embryos were smaller and moderately shorter than wildtype
• the strictly radial orientation of the neuroepithelial cells of the neural tube is severely disturbed and numerous cells emigrate into the surrounding mesoderm
• from E8.5 on, observed neural tube kinking
• intersomitic sulci are less prominent than in wildtype
• somites featured a shallow, less regular external contour bulging beneath the surface ectoderm, sometimes appearing collapsed
• somites were smaller than in wildtype
• 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
• from E9.5, homozygous null embryos were smaller and moderately shorter than wildtype

muscle
• less well organized dermatomyotome

nervous system
• cells with pyknotic nuclei and extensive surface blebbing, indicative of apoptosis, are found in regions of the neuroepithelium
• the strictly radial orientation of the neuroepithelial cells of the neural tube is severely disturbed and numerous cells emigrate into the surrounding mesoderm
• from E8.5 on, observed neural tube kinking
• from E9.5 on, the growth of the telencephalon anlage is visibly retarded, evidenced by either absent or hypoplastic hemispheric vesicles

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

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





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory