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Targeted Allele Detail
Symbol: Atmtm1Fwa
Name: ataxia telangiectasia mutated; targeted mutation 1, Frederick W Alt
MGI ID: MGI:1933748
Synonyms: Atm-, Atmy
Gene: Atm  Location: Chr9:53350449-53448040 bp, - strand  Genetic Position: Chr9, 29.12 cM, cytoband C-D
Alliance: Atmtm1Fwa page
Dendritic changes in Purkinje cells of Atmtm1Fwa/Atmtm1Fwa mice

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

Germline Transmission:  Earliest citation of germline transmission: J:61201
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 16 assay results
In Structures Affected by this Mutation: 3 anatomical structures
Tumor Data
List all tumor models in MMHCdb carrying Atmtm1Fwa
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:  126 strains or lines available
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:  33 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory