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Phenotype Image Detail
Image
Caption Severely impaired vascular development but only mild somitogenesis defects in Aph1atm1.1Bdes/Aph1atm1.1Bdes mice. A-D: Yolk sac vascular reorganization is defective in homozygous mutant mice. Normal reorganization of vascular primordia between E8.5 and E9.5 in wild type embryos establishes a hierarchically organized vascular tree (arrows in A and C). This tree is completely absent in mutant mice (B and D). Only isolated blood forming islands (white arrow in D) and short Y-shaped vascular profiles (black arrowhead in D) are visible. E-G: Mutant embryos (F and G) at E10.5 develop a body axis that extends well beyond the hindlimb bud (HB) but remains thin caudal to the fore limb bud (FB). Note that intersomitic blood vessels develop, but display irregular patterning (black arrowheads in E and G). Somite development in the mutant extends along the entire body axis (white arrows in E-G) up to the level of the hindlimb bud anlage. Note the hypoplastic development of forebrain hemispheres (white circles). H-K: Somites (shown at the level of the hindlimb bud in H and I) remain smaller than normal and form only shallow bulges beneath the ectoderm, sometimes appearing even collapsed (double white arrowhead in I). Intersomitic sulci are likewise less prominent, but are present bilaterally in a fairly symmetric fashion (white arrowheads). Numerous apoptotic cells are evidenced by their condensed nuclei (black arrowheads in K). Note that intersomitic blood vessels are readily seen in wild type embryos (asterisk). Scale bars: A and B, 400um; C and D, 50um; E-G, 300um; H and I, 50um; J and K, 30um. HB, hindlimb bud; FB, forelimb bud; HiB, hindbrain, MB, midbrain; MD, dermatomyotome; SC, sclerotome.
Copyright This image is from Serneels L, Proc Natl Acad Sci U S A 2005 Feb 1;102(5):1719-24. Copyright 2005 National Academy of Sciences, U.S.A. J:96106
Associated
Alleles
Symbol Name
Aph1atm1.1Bdes aph1 homolog A, gamma secretase subunit; targeted mutation 1.1, Bart De Strooper
Associated
Genotypes
Allelic Composition Genetic Background
Aph1atm1.1Bdes/Aph1atm1.1Bdes involves: 129P2/OlaHsd * C57BL/6J

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory