CRISPR/Cas9 technology using sgRNA 5-TGACATCGCTGTTATCCAAG-3 generated a 65 bp deletion from intron 2 into exon 3. This deletion does not allow splicing into exon 3, and potential alternative splicing into exons 4, 5 or 6 containing the active sites for Dnase1 enzymatic activity lead to frameshift mutations and premature stop codons. (J:345011)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N-Atm1Brd
Endonuclease-mediated
Intragenic deletion
--
1
4
1

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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