Atr^tm1Ofc
Targeted Allele Detail

Summary

• Symbol: Atr^tm1Ofc
• Name: ataxia telangiectasia and Rad3 related; targeted mutation 1, Oscar Fernandez-Capetillo
• MGI ID: MGI:4355008
• Synonyms: ATR^S, ATR^seckel
• Gene: Atr Location: Chr9:95739650-95833834 bp, + strand Genetic Position: Chr9, 50.27 cM, cytoband E4
• Alliance: Atr^tm1Ofc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:151542
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion, Single point mutation
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

26 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Atr Mutation: 133 strains or lines available

References

• 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
• All: 13 reference(s)