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Phenotype Image Detail
Image
Caption Shown are Purkinje cells (PC) from wild type (A) mouse where lysosomes are rarely encountered. In contrast, in the Atmtm1Awb/Atmtm1Awb PC shown, there are large clusters of lyosomes in the PC cytoplasm (B, arrows). Similar abnormalities could be seen outside the PC layer. (D) Clusters of lysosomes in the granular cell layer (G) of the homozygous mutant, which are not apparent in the wild type (C). E & F: Detail of the fine structure of the lysosomes in the homozygous mutant mouse brains. Somatic primary lysosomes are marked by arrows in E. Lipofuscin granules (complex, engorged lysosomes; arrowheads) are shown in F. Note the lack of ultrastructural defects even in the presence of the lysosomal proliferation. Abbreviations: n: neuropil; N: nucleus Scale bars: A-D: 2um; E & F: 0.5um
Copyright This image is from Barlow C, Proc Natl Acad Sci U S A 2000 Jan 18;97(2):871-6. Copyright 2000 National Academy of Sciences, U.S.A. J:59933
Associated
Alleles
Symbol Name
Atmtm1Awb ataxia telangiectasia mutated; targeted mutation 1, Anthony Wynshaw Boris
Associated
Genotypes
Allelic Composition Genetic Background
Atmtm1Awb/Atmtm1Awb either: 129S6/SvEvTac-Atmtm1Awb or (involves: 129S6/SvEvTac * NIH Black Swiss)

Contributing Projects:
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