Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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 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

View phenotypes and curated references for all genotypes (concatenated display).

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

List all tumor models in MMHCdb carrying Atmtm1Fwa

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

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)