A floxed neo cassette was inserted into intron 14 and additional loxP site was inserted into intron 15. Cre mediated recombination was used to remove the neo cassette and exon 15. The protein product lacks the last 24 amino acids that contains the ATM binding domain. The presence of a shortened protein product was confirmed by western blot analysis on extracts from mouse embryonic fibroblasts. (J:129762)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Intragenic deletion
--
1
16
4

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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