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| Nomenclature |
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Symbol:
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Atmtm1Fwa
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Name:
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ataxia telangiectasia mutated homolog (human);
targeted mutation 1, Frederick W Alt
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MGI ID: |
MGI:1933748 |
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Synonyms: |
Atm-, Atmy |
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Gene:
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Atm
Location:
Chr9:53439149-53536740 bp, - strand
Genetic Position: Chr9,
29.12 cM, cytoband C-D
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Dendritic changes in Purkinje cells of Atmtm1Fwa/Atmtm1Fwa mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:61201
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR analysis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice. (J:61201)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:61201
Borghesani PR et al.,
"Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice."
Proc Natl Acad Sci U S A 2000 Mar 28;97(7):3336-41
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All: |
24 reference(s)
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Analysis Tools
