Atn1^tm1Rexu
Targeted Allele Detail

Summary

• Symbol: Atn1^tm1Rexu
• Name: atrophin 1; targeted mutation 1, Rener Xu
• MGI ID: MGI:4360645
• Synonyms: Atn1^t
• Gene: Atn1 Location: Chr6:124719507-124733450 bp, - strand Genetic Position: Chr6, 59.17 cM
• Alliance: Atn1^tm1Rexu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:152709
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-Neo cassette was inserted into exon 5 by homologous recombination to introduce a premature "TAG" stop codon and produce a truncated protein of 416 amino acids with an intact N-terminus but lacking both the poly-Q stretch and following C-terminal peptides. Protein was detected at a level similar to that of the wild-type protein (1,175 amino acids) in brain samples. (J:152709)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Atn1 Mutation: 49 strains or lines available

References

• Original: J:152709 Yu J, et al., C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice. Dev Dyn. 2009 Aug 13;238(10):2471-2478
• All: 1 reference(s)