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. (J:69726)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129T2/SvEms
Targeted
Intragenic deletion
--
1
26
5

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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