Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Kdm6bem1Masn
Name:	KDM1 lysine (K)-specific demethylase 6B; endonuclease-mediated mutation 1, Masahide Asano
MGI ID:	MGI:6277163
Synonyms:	Jmjd3deltaDM
Gene:	Kdm6b  Location: Chr11:69289334-69304501 bp, - strand  Genetic Position: Chr11, 42.6 cM
Alliance:	Kdm6bem1Masn page

Strain of Origin:

(C57BL/6 x DBA/2)F1

Allele Type:    Endonuclease-mediated (Not Applicable) Mutation:    Intragenic deletion   Mutation details: 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)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Kdm6b Mutation:	65 strains or lines available

Original:	J:247259 Naruse C, et al., New insights into the role of Jmjd3 and Utx in axial skeletal formation in mice. FASEB J. 2017 Jun;31(6):2252-2266
All:	1 reference(s)