Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunoassay. Palmitoyl-protein thioesterase activity in the brain of the mutant is reduced to background levels. Although healthy at birth, by age four to five months, mutant mice display lack of grooming and an abnormal gait that progresses to hind limb paralysis. By six to eight months of age mutant mice have a low body weight and display an abnormal clasping behavior. Aggressive behavior results in fighting and dermatitis due to bite wounds. By seven months of age, mortality is 50% with very few mice surviving beyond ten months of age. Myoclonic jerks and seizures manifest at age three to four months. Strong rapid hind limb seizures ("popcorn" seizures) that propel mice several feet also occur. Brain size of the mutant mice is reduced. Histologically, mutant brains show neuronal loss and apoptosis in the hippocampus, cerebral cortex and cerebellum. Abundant autofluorescent storage material, termed granular osmiophilic deposits (GROD), seen under electron microscopic examination of mutant mouse brain tissue is indistinguishable from the GROD observed in human infantile neuronal ceroid lipofuscinosis. This mutant mouse strai n represents a model that may be useful in studies of neuronal ceroid lipofuscinoses, including infantile Batten disease.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

These Ppt1 knock-out mice exhibit motor abnormalities, myoclonic jerking and seizures, and neuronal loss.

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