HNRNPH2R114W knock-in (KI) mice have a humanized exon 2, carrying the R114W missense variant, replacing equivalent mouse exon 4 in the heterogeneous nuclear ribonucleoprotein H2 (Hnrnph2) gene. Hnrnph2 codes for a protein that is part of the HNRNP protein family; these proteins localize to the nucleus and shuttle pre-mRNA transcripts between the nucleus and cytoplasm for processing and transport. Hnrnph2 mutations have been associated with a rare genetic condition associated with developmental delay, intellectual disability, autistic spectrum disorder, reduced muscle tone, and seizures. Homozygous females and hemizygous males are viable and fertile with no overt phenotype. Hnrnph2 is an X-linked gene. The donating laboratory indicates that hemizygous males have lower body weight compared to sex-matched wildtype controls, but otherwise appear normal and are fertile. All genotypes are born in expected Mendelian ratios from heterozygous x hemizygous breeding (n=72). 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.

HNRNPH2R114W knock-in (KI) mice have a humanized exon 2, harboring the R114W missense variant, replacing mouse exon 4 in the Hnrnph2 gene. This strain may be useful for studying HNRNPH2-related neurodevelopmental disorder.

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.