AtmR35X/R35X mice possess an R35X mutation in the Atm gene, resulting in a premature stop codon, homologous to a mutation found in a large population of North African Ataxia Telangiectasia (A-T) patients. Atm encodes a serine/threonine protein kinase involved in the recognition of DNA damage and the activation of checkpoint signaling, protecting cells from DNA lesions caused by damage. Mice that are homozygous for this allele are viable and fertile. Oxidative stress induced damage to DNA has been suggested to be a significant factor in the onset of some neurological conditions including Alzheimer's disease, Parkinson's disease, and Huntington's disease, as well as Ataxia Telangiectasia (A-T) and Ataxia oculomotor apraxia 1 (AOA1), the most common recessive spinocerebellar ataxia. AOA1 is characterized by ataxia and oculomotor apraxia. A lack of functional ATM disrupts DNA repair and can lead to an accumulation of damage in cells, particularly affecting cells of the cerebellum, which can lead to cell death in the cerebellum, causing the characteristic movement problems of AOA1. AtmR35X/R35X exhibit reduced survival, with 42% of mice still alive at 400 days of age. One-third of mice die from complications related to large thymic cancers in the thoracic cavity. They also show decreased expression of single positive thymocytes, indicating impaired thymocyte maturation, and a reduction in the total fraction of CD3+ T-cells in the peripheral blood. AtmR35X/R35X mice do not exhibit ataxia. When bred to Aptx-/- mice (Stock No. <a href="https://www.jax.org/strain/037331">037331</a>), resulting double mutant mice develop a progressively severe ataxic phenotype associated with atrophy of the cerebellar molecular layer. They also exhibit a high predisposition to developing cancer (thymomas) and immune abnormalities such as impaired early thymocyte development and T-cell maturation, symptoms characteristic of A-T.

AtmR35X/R35X mice possess an R35X mutation in the Atm gene, resulting in a premature stop codon, homologous to a mutation found in a large population of North African Ataxia Telangiectasia (A-T) patients. This strain may be useful for studying the role of oxidative stress and DNA break repair in the onset of neurological conditions such as A-T and Ataxia oculomotor apraxia 1 (AOA1).

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