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Atmtm1Fwa
Targeted Allele Detail
Nomenclature
Symbol: Atmtm1Fwa
Name: ataxia telangiectasia mutated; targeted mutation 1, Frederick W Alt
MGI ID: MGI:1933748
Synonyms: Atm-, Atmy
Gene: Atm  Location: Chr9:53439149-53536740 bp, - strand  Genetic Position: Chr9, 29.12 cM, cytoband C-D
Dendritic changes in Purkinje cells of Atmtm1Fwa/Atmtm1Fwa 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 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  32 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:  32 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
02/18/2020
MGI 6.14
The Jackson Laboratory