ATPase type 13A2 belongs to a family of ATPases that transport inorganic cations and other substrates across cell membranes. Certain mutations in the human ATP13A2 gene cause Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis. These mice carry a targeted mutation of the Atp13a2 gene in which exons 12 through 15 and a portion of exon 16 are disrupted by a NEO cassette. Homozygotes are viable and fertile. A truncated transcript is detected by Northern blot and RT-PCR analysis of brain tissue. Western blot analysis did not detect a resultant mutant protein, indicating it is unstable. Homozygotes develop an unsteady gait and reduced spontaneous activity (hindlimb stepping) at 20 months of age. Male homozygotes, between 20 to 29 months of age, display ataxia (uneven stride length). The increased accumulation of intraneuronal storage material (lipofuscin) observed in homozygotes 18-20 months of age was most evident in the hippocampus, where an approximate 3 fold increase in triton-soluble alpha-synuclein is also found. Lipofuscinosis is also found in the cerebellum and cortex. During backcrossing, the Y chromosome may not have been fixed to the C57BL/6NTac genetic background.

These Atp13a2 targeted mutation mice develop late-onset impaired motor function and behavior, as well as lipofuscinosis. This strain may be useful in studies related to synucleinopathies such as Parkinson's disease, and lysosomal storage disorders.

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B6N.129S6(Cg)-Atp13a2<tm1Pjsch>/J Frozen Embryo