The Kmt2a (lysine (K)-specific methyltransferase 2A, also known as MLL)) encodes a histone modification enzyme involved in the regulation of gene expression in early development and hematopoiesis. Mutations in Kmt2a are associated with Wiedemann-Steiner Syndrome a condition characterized by developmental delay, short stature, some facial dysmorphia and low muscle tone.CRISPR/Cas9 endonuclease-mediated genome editing of Kmt2a created a 414 bp deletion in exon 2, resulting in the loss of exon 2 (indel mutation). &nbsp;Heterozygous mice are viable and fertile. In the homozygous state, the mutation is embryonic or perinatal lethal.

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

The use of this mouse strain or other product (the "Licensed Product") is subject to the terms and conditions of the Limited License from The Broad Institute.

Kmt2adel414 is a CRISPR/Cas9 generated mutant of the lysine (K)-specific methyltransferase 2A gene carrying 414 nt deletion resulting in the loss of exon 2 (indel mutation). These mice may be useful in studying Wiedemann-Steiner Syndrome.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.