Zinc finger nuclease mediated targeted mutation generated an intron 6 splice site mutation changing exon 7 splice acceptor CAG to CGG (GRCm39:chr14:30976122A>G). This leads to the activation of a cryptic CAG splice site in the 5' end of exon 7 which results in skipping the first 5 bp from that exon, leading to a frameshift and premature stop codon. The mutation is the equivalent of the same human exon 7 splice acceptor mutation found in a family with malignant mesothelioma. (J:231692)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB
Endonuclease-mediated
Single point
--
1
11
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

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PMID
Journal
Year
IF
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