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Transgenic mice with Alzheimer presenilin 1 (PS-1) mutations have been shown to have accelerated neurodegeneration without amyloid plaque formation so the pathogenic role of the PS-1 mutation is upstream of the amyloid cascade. Careful quantitative studies on PS-1 transgenic mice were carried out. Without amyloid plaque formation, neurodegeneration was seen to be accelerated significantly in mice more than 13 months old and having familial Alzheimer disease mutant PS-1.

The subcellular localization of wild-type human ataxin-1 and mutant ataxin-1 in the Purkinje cells of transgenic mice was examined, to understand the pathogenesis of spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder. Ataxin-1 was found to localize to the nuclei of cerebellar Purkinje cells. Mutant ataxin-1 was found to localize to a single nuclear structure in affected neurons.

There is a good deal of evidence from epidemiological research that infection with hepatitis B virus is associated with liver cancer. However, there are few experimental findings showing that the virus is directly involved in the development of disease. A gene of the hepatitis B virus, known as HBx, regulates the expression of the other viral genes. Such genes, known as transactivators, use the machinery of the host (infected) cell for regulation. They can also affect the expression of host cells, which in turn would affect how the cell functions, including uncontrolled growth, as in the cancerous state. The HBx gene was given to mice at the embryonic stage. The liver cells of these mice were altered and diseased. Eventually the cells became cancerous, and spread to other areas. Male mice developed the disease and died much more quickly than female mice. This animal model can be used to study the role of the HBx gene of the hepatitis B virus in the development of liver cancer. (Consumer Summary produced by Reliance Medical Information, Inc.)

Sun and colleagues have provided evidence that the so-called Beckwith-Weidemann syndrome (BWS) and other symptoms can occur in children with double the usual dose of insulin-like growth factor-2 (IGF2). Mouse models have reinforced the possible link between BWS and the Simpson-Golabi-Behmel syndrome, another human overgrowth syndrome.

Knockout and transgenic mice aid the development of mammalian models of human disease, which help analyze and combat physiological disorders of the immune system and the nervous system. Private health organizations such as the Jackson Laboratory are trying to introduce an 'induced mutant resource' at inexpensive rates. The Cystic Fibrosis mouse and the Min mouse, which develop the human equivalent of colon cancer, are being distributed by the Jackson Laboratory for research programs. The Jackson Laboratory, with its non-profit attitude, seeks to enhance progress in science by distributing a p53 mutant as well.