Primary Identifier | MGI:2181756 | Allele Type | Targeted |
Attribute String | Null/knockout | Gene | Atm |
Transmission | Germline | Strain of Origin | 129T2/SvEms |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected. |