Mutations in the human heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2) gene cause Bain type of X-linked syndromic intellectual developmental disorder (MRXSB, OMIM: 300986) with features that include developmental delay, motor function deficits, and seizures. More than 90% of patients with hnRNPH2 have a missense mutation within or adjacent to the nuclear localization signal (NLS). R206W and R206Q are the two most common missense variants. HNRNPH2 is an RNA binding protein that complexes with heterogenous nuclear RNA (hnRNA). The human and mouse genes are highly conserved differing at only 4 amino acids out of 449 amino acids. Hnrnph2 R206W knockin mice carry CRISPR/cas9-generated, human-equivalent R206W knock-in mutation of the X-linked mouse heterogeneous nuclear ribonucleoprotein H2 (Hnrnph2) gene. This missense mutation modifies the nuclear localization signal (NLS) and impairs the interaction between HNRNPH2 and its nuclear transport receptor Kap&Beta;2. Mice recapitulate clinical features of Bain type of X-linked syndromic intellectual developmental disorder (MRXSB), including impaired motor function and increased susceptibility to audiogenic seizures. Hemizygous males show significantly reduced postnatal survival (&gt;60% die by 1 week of age) but are fertile if they survive until sexual maturity. Female homozygous and heterozygous mice are viable and fertile. Males, and to a lesser extent females, are smaller than wild type littermates, have craniofacial abnormalities, and an increased incidence of hydrocephalus. Of note, the P209L mutation created by Dr. Taylor is available as C57BL/6J-Hnrnph2em1Jpat/Mmjax (MMRRC Stock No. <a href="https://www.jax.org/strain/038744">071606</a>).

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Hnrnph2 R206W knock-in mice carry an arginine to tryptophan amino acid substitution at codon 206 (R206W) in the X-linked Hnrnph2 (heterogeneous nuclear ribonucleoprotein H2) gene. Mice exhibit impaired motor function, increased susceptibility to audiogenic seizures and male postnatal lethality. These mice may be useful for research in Bain type of X-linked syndromic intellectual developmental disorder (MRXSB). Of note, the P209L mutation created by Dr. Taylor is available as C57BL/6J-Hnrnph2em1Jpat/Mmjax (MMRRC Stock No. <a href="https://www.jax.org/strain/038744">071606</a>).

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