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)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count