BIOMAT Database Logo BIOMAT Database Logo

DRPLA: recent advances in research using transgenic mouse models. 2013

Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

Dentatorubral-pallidoluysian atrophy (DRPLA) is one form of trinucleotide repeat disease, which has a high prevalence rate in the Japanese population. Our group established DRPLA transgenic mice harboring a single copy of a full-length human mutant DRPLA gene with 76 CAG repeats (Q76 mice). Q76 mice showed no obvious neurological phenotype but showed somatic and intergenerational instabilities of CAG repeats which closely resembled those in human DRPLA. During the breeding of Q76 mice, we serendipitously generated an additional strain with 129 repeats by "en masse" expansion of CAG repeats (Q129 mice). These two substrains are ideal models for the investigation of CAG-repeat-dependent pathogenesis of DRPLA, because they have the same genetic background except for the length of CAG repeats. Q129 mice showed a marked neurological phenotype and massive neuronal intranuclear accumulation (NIA) of mutant proteins, but showed no obvious neuronal loss. Through detailed investigations of these two substrains, we believe that "neuronal dysfunction without neuronal loss" is the key concept in the pathogenesis of DRPLA.

UI MeSH Term Description Entries
D008297 Male Males
D008822 Mice, Transgenic Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN. Transgenic Mice,Founder Mice, Transgenic,Mouse, Founder, Transgenic,Mouse, Transgenic,Mice, Transgenic Founder,Transgenic Founder Mice,Transgenic Mouse
D009474 Neurons The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM. Nerve Cells,Cell, Nerve,Cells, Nerve,Nerve Cell,Neuron
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D010957 Plasmids Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS. Episomes,Episome,Plasmid
D003001 Cloning, Molecular The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells. Molecular Cloning
D004195 Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. Animal Disease Model,Animal Disease Models,Disease Model, Animal
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006824 Hybridization, Genetic The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid. Crossbreeding,Hybridization, Intraspecies,Crossbreedings,Genetic Hybridization,Genetic Hybridizations,Hybridizations, Genetic,Hybridizations, Intraspecies,Intraspecies Hybridization,Intraspecies Hybridizations

Related Publications

Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent advances in cancer research: mouse models of tumorigenesis.
June 2002, Biochimica et biophysica acta,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
[Recent advances in strawberry transgenic research].
February 2007, Yi chuan = Hereditas,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA.
June 2001, Neurobiology of disease,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Transgenic Mouse Models in Cancer Research.
January 2018, Frontiers in oncology,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent Advances in Proteinuric Kidney Disease/Nephrotic Syndrome: Lessons from Knockout/Transgenic Mouse Models.
June 2023, Biomedicines,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent technological advances in using mouse models to study ovarian cancer.
January 2014, Frontiers in oncology,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent Advances in Mouse Models of Sjögren's Syndrome.
January 2020, Frontiers in immunology,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent advances in mouse models for systemic sclerosis.
December 2018, Autoimmunity reviews,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Recent advances in the protocols of transgenic mouse mutation assays.
November 2000, Mutation research,
Kazushi Suzuki, and Toshiya Sato, and Mitsunori Yamada, and Hitoshi Takahashi, and Shoji Tsuji
Transgenic mouse models in carcinogenesis research and testing.
March 2000, Toxicology letters,
Copied contents to your clipboard!