Med13lP861L mice harbor a humanized exon 15, with the P861L missense variant, replacing mouse exon 15 in the mediator complex subunit 13-like (Med13l) gene. Med13l encodes a subunit of the large mediator complex which functions as a transcriptional regulator for most RNA polymerase II-transcribed genes. Mutations in this gene have been associated with a rare developmental disorder, MED13L syndrome. Heterozygous and homozygous mice are viable and fertile with no overt phenotype. The donating laboratory notes that mRNA expression of homozygous brain tissue by qRTPCR showed increased expression of the humanized exon relative to endogenous wildtype controls. If additional characterization of these mice is performed, we may modify the strain description accordingly.

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.

Med13lP861L mice have a humanized exon 15, with the P861L missense variant, replacing mouse exon 15 in the Med13l gene. These mice may be useful when studying the developmental disorder, MED13L 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.