The DMPK gene provides instructions for producing dystrophia myotonica protein kinase, a serine/threonine kinase that is primarily expressed in skeletal muscle, cardiac muscle, and the central nervous system, with lower levels found in smooth muscle and other tissues. This protein serves as a critical regulator of cellular processes, including the maintenance of muscle structure, ion channel gating (specifically sodium and calcium channels), and intracellular signaling pathways related to cytoskeletal dynamics and mitochondrial health. The gene is famously associated with Myotonic Dystrophy Type 1 (DM1), a multisystemic disorder caused by an unstable CTG trinucleotide repeat expansion in the 3' untranslated region (3'UTR) ^[1]. In healthy individuals, this sequence repeats between 5 and 37 times, but pathogenic expansions exceeding 50 repeats—sometimes reaching thousands—lead to the production of toxic "gain-of-function" RNA ^[2]. This mutant RNA accumulates in nuclear foci, sequestering critical splicing proteins (like MBNL1) and resulting in a wide array of clinical features, including progressive muscle wasting, myotonia (the inability to relax muscles), cardiac conduction defects, cataracts, and endocrine dysfunctions such as insulin resistance ^[3]. The huDMPK mouse is a humanized model constructed through gene-editing technology, in which the sequences upstream of exon 1 to intron 10 of the mouse Dmpk gene are replaced with the sequences from upstream of exon 1 to downstream of the human DMPK gene. This model can be used for research on Myotonic Dystrophy Type 1 (DM1), cardiac conduction defects, cataracts, and endocrine dysfunctions such as insulin resistance, as well as for screening, development, and preclinical evaluation of DMPK-targeted therapeutics.

Ntrk1-CreERT2 mice are generated by inserting an IRES-CreERT2 cassette via genome editing immediately downstream of the TAG stop codon in the mouse Ntrk1 gene. Without tamoxifen treatment, CreERT2 recombinase primarily resides in the cytoplasm; nuclear translocation and recombination activity of CreERT2 only occur upon tamoxifen stimulation. When crossed with mice containing loxP sites, offspring are expected to exhibit Cre-mediated recombination between loxP sites in Ntrk1-positive cells following tamoxifen administration.

Diaph1 is located on chromosome 18 of mice. Nuclease Technology was used to design sgRNA; Diaph1 knockout mice were obtained by applying high-throughput electroporation of fertilized eggs. After sexual maturity, sperm were collected for cryopreservation.

Clock is located on chromosome 5 of mice. SgRNA and ssDNA were designed using Nuclease Technology; Clock conditional knockout mice were obtained by high-throughput electroporation of fertilized eggs. After sexual maturity, sperm were collected for cryopreservation.