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Atmm5Btlr
Chemically induced Allele Detail
Summary
Symbol: Atmm5Btlr
Name: ataxia telangiectasia mutated; mutation 5, Bruce Beutler
MGI ID: MGI:6285932
Synonyms: osphere
Gene: Atm  Location: Chr9:53350449-53448040 bp, - strand  Genetic Position: Chr9, 29.12 cM, cytoband C-D
Alliance: Atmm5Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to A transversion at base pair 53,479,673 (v38) on chromosome 9, or base pair 57,144 in the GenBank genomic region NC_000075. The mutation corresponds to residue 5,739 in the mRNA sequence NM_007499 within exon 36 of 64 total exons. The mutation results in a leucine to glutamine substitution at amino acid 1,867 (L1867Q) in the ATM protein. (J:272824)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Atm Mutation:  170 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3671
References
Original:  J:272824 Zhong X, et al., Mutagenetix entry for osphere. MGI Direct Data Submission. 2019;
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory