''Shiverer'' mice are
mice
A mouse ( : mice) is a small rodent. Characteristically, mice are known to have a pointed snout, small rounded ears, a body-length scaly tail, and a high breeding rate. The best known mouse species is the common house mouse (''Mus musculus' ...
which possess the ''shiverer'' (shi/shi) mutation in the
''MBP'' gene. ''Shiverer'' mice develop a characteristic "shaking" or "shivering" gait within a few weeks of birth. They are commonly used as animal models of
leukodystrophy
Leukodystrophies are a group of usually inherited disorders characterized by degeneration of the white matter in the brain. The word ''leukodystrophy'' comes from the Greek roots ''leuko'', "white", ''dys'', "abnormal" and ''troph'', "growth". ...
in
neuroscience research.
Characteristics
The ''shiverer'' mutation is an
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
loss-of-function
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
mutation. It was generated by a 20-kilobase deletion within the
''MBP'' gene,
resulting in the failure of
oligodendrocytes to form compact
myelin in the
central nervous system.
Axons in ''shiverer'' mice fail to attain a normal diameter and exhibit altered
cytoskeleton structure.
Approximately twelve days after birth, ''shiverer'' mice begin to exhibit
tremor
A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, fa ...
s which progressively worsen. They exhibit
tonic seizure behavior after weaning and die prematurely, typically between 50 and 100 days after birth.
Research use
''Shiverer'' mice are used to model human
leukodystrophies due to the congenital nature and early onset of the ''shiverer'' phenotype, which mimics the disease progression observed in humans. They are also used to study myelin defects more generally in
demyelinating diseases such as
multiple sclerosis
Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This d ...
.
The ''shiverer'' model has also been used to test novel therapies which promote
myelination such as
neural stem cell therapy.
References
{{reflist
Laboratory mouse strains
Animal models in neuroscience
Behavioural genetics