Atm^tm1Fwa
Targeted Allele Detail

Summary

• Symbol: Atm^tm1Fwa
• Name: ataxia telangiectasia mutated; targeted mutation 1, Frederick W Alt
• MGI ID: MGI:1933748
• Synonyms: Atm^-, Atm^y
• Gene: Atm Location: Chr9:53350449-53448040 bp, - strand Genetic Position: Chr9, 29.12 cM, cytoband C-D
• Alliance: Atm^tm1Fwa page

Dendritic changes in Purkinje cells of Atm^tm1Fwa/Atm^tm1Fwa mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:61201
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	16 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Atm^tm1Fwa

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Atm Mutation: 170 strains or lines available

References

• 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
• All: 34 reference(s)