B6-hELP1 Mouse

Familial dysautonomia (FD) is a rare autosomal recessive genetic neurological disorder. Patients with FD exhibit symptoms such as excessive sweating, intermittent hypertension, drooling, abnormal glandular secretion, difficulty swallowing, urinary and fecal incontinence, breathing difficulties, periodic vomiting, and physical developmental abnormalities, including intellectual disability and osteoporosis. FD primarily results from underdeveloped cervical sympathetic ganglia, with mutations in the ELP1 gene being a significant genetic factor. The ELP1 gene, also known as IKBKAP, encodes components of the elongation complex essential for tRNA modification. This widely expressed protein plays a crucial role in neuronal development and function. Mutations in both copies of the ELP1 gene can lead to decreased or absent ELP1 protein levels, causing neuronal damage and potentially contributing to FD symptoms^[1].

There is no mature cure for FD. Treatment primarily focuses on symptomatic relief and supportive care to alleviate symptoms and prevent complications. Gene therapy, a promising approach, targets the underlying cause of FD---gene mutations---enhancing treatment efficiency and persistence. This field is expected to be the next breakthrough. At present, the ELP1 targeted drug pipeline has begun to be laid out. The preclinical animal models are mostly transgenic humanized mice. Compared with randomly inserted, humanized region-restricted transgenic humanized mice, more scientific and efficient whole-genome humanized animal models will help promote the potential therapy targeting ELP1 to accelerate into the clinical stage. This strain is a mouse Elp1 gene humanized model and can be used to research Familial dysautonomia (FD). The homozygous B6-hELP1 mice are viable and fertile. In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation (ELP1 IVS20+6T>C) models based on this strain and provide customized services for specific mutations.