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| Nomenclature |
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Symbol:
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Atrtm1Ofc
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Name:
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ataxia telangiectasia and Rad3 related;
targeted mutation 1, Oscar Fernandez-Capetillo
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MGI ID: |
MGI:4355008 |
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Synonyms: |
ATRS, ATRseckel |
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Gene:
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Atr
Location:
Chr9:95857597-95951644 bp, + strand
Genetic Position: Chr9,
50.27 cM, cytoband E4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:151542
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion, Single point mutation |
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Mutation details: Exons 8 through 10 were replaced with the corresponding human sequences. In addition, exon 9 contains an A to G transition that mimicks the mutation found in patients with Seckel syndrome. This mutation results in the skipping of this exon through abnormal splicing. (J:151542)
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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:151542
Murga M et al.,
"A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging."
Nat Genet 2009 Aug;41(8):891-8
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All: |
6 reference(s)
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Analysis Tools
