CRISPR/Cas9 technology generated a 27 bp deletion within exon 18, including the coding sequence for the demethylase activity of Kdm6b. This allele lacks the splice acceptor of exon 18, resulting in two types of mRNA; an r.4570_4599del that encodes a predicted protein that contains a deletion of amino acids 1387-1396 (deltaDM) and is predicted to lose H3K27 demethylase activity and a second mRNA transcribed from exon 17 through intron 17, producing a nonsense mutation in intron 17 which results in a predicted C-terminal deletion (deltaC). qRT-PCR shows that the ratio of deltaDM mRNA to deltaC mRNA is about 1.5 to 1. (J:247259)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F1
Endonuclease-mediated
Intragenic deletion
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1
1
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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