Modern medicine and the pharmaceuti-
cal industry rely heavily on animal mod-
els for drug-target validation. Preclinical
drug development is performed almost
exclusively in inbred mice and rats. This
affords substantial savings by increasing
data reproducibility because of the small
genetic heterogeneity of the animals.
However, these savings are often offset
by failed clinical trials, sometimes reflect-
ing the inadequacy of inbred animals to
model genetic variation in humans. The
solution could include using mouse
strains closely related to wild mice and
more elaborate comparative genomics
of the natural variations of new drug-
target genes in humans and mice.
Animal models, in particular mouse
models, for human diseases have made
a significant contribution to modern
medicine. During the second half of the
preceding century, mice have become
the most widely used species in biomedi-
cal research. It would be impossible to
envisage modern medicine without the
availability of transgenic mice, knockout
mice and inbred strains of mice with de-
fined traits, such as obesity, susceptibility
to stroke or seizures, and so on.
Inbred strains of animals are gener-
ated by mating male and female siblings
of >21 generations. The founders for a
new strain are sometimes selected for a
particular trait, such as susceptibility to a
certain disease. This ensures that descen-
dants of the original pair are almost
homogenous genetically and, therefore,
respond similarly to treatments provok-
ing the onset of disease (such as diet) as
well as to drugs designed to combat it.
Indeed, marked strain differences exist in
the susceptibly of mice to atherosclero-
sis
1
, autoimmune diseases
2
, stroke
3
and
asthma
4
.
Inbred mice: insufficient
representation for natural
genome diversity
Although the advantages of the genetic
homogeneity of inbred mice for medi-
cal and pharmacological research are
obvious, the pitfalls are sometimes
overlooked. Complex diseases involve
numerous modifying genes that govern
disease severity, age of onset, progres-
sion rate and the efficacy of available
drugs. The most common monogenic
disease, cystic fibrosis, is highly variable
even in patients carrying the same
specific mutation, demonstrating the
significant role of modifying genes in its
etiology
5
. The contribution of different
genes to phenotypic expression and the
progression of complex diseases reflects
the patient’s share of the natural human-
genome diversity, in addition to the
contribution of non-genomic factors.
Using a single strain of inbred mice
cannot reflect the natural variation of the
human patient population. For example,
using genetically homogenous mice for
studying complex human disorders,
such as cancer, asthma and diabetes,
might obscure the input of crucial human
modifying genes. Such pitfalls are also
evident when using transgenic and knock-
out mouse models, as these are typically
produced on specific backgrounds, such
as 129/Sv or C57BL6
1
. This might inter-
fere with the identification of new drug
targets or, worse, lead to heavy invest-
ments in drugs that eventually fail in
clinical trials. Indeed, <10% of new
drugs tested in clinical trials receive Food
and Drug Administration (FDA) approval.
Many failures are related to unwanted
side effects, sometimes reflecting the
different drug metabolism in mice and
humans; however, some failures are sim-
ply a result of lack of efficacy. This might,
in some cases, reflect the inadequacy of
animal models to mirror human genome
variation, and contribute to the escalat-
ing cost of new drugs. A study of drug
efficacy using a disease model in a single
inbred mouse strain could be compared
with a clinical drug trial performed in an
isolated South Pacific island population.
Clearly, such trials in a non-representa-
tive selected sample cannot depict
the huge intricacy and heterogeneity of
human complex diseases. Indeed, Phase
III trials ideally involve several medical
centers in different countries to allow,
among other factors, generalization for
different ethnic backgrounds. Likewise,
disease models using a single strain of
inbred mice cannot reflect the natural
variation of the mouse genome faithfully,
and the full spectrum of interactions
between products of the major disease-
related genes and the disease-modifying
genes.
The need for comparative
genomics in humans and mice
The realization that our genome is highly
variable is changing modern medicine
6
.
Humans are much more homogenous
than other mammal species because all
update feature DDT Vol. 6, No. 15 August 2001
1359-6446/01/$ – see front matter ©2001 Elsevier Science Ltd. All rights reserved. PII: S1359-6446(01)01874-8 766
Animal models and human genome
diversity: the pitfalls of inbred mice
David Gurwitz, National Laboratory for the Genetics of Israeli Populations, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel,
tel/fax: +972 3 640 7611, e-mail: gurwitz@post.tau.ac.il, and Abraham Weizman, Laboratory of Biological Psychiatry, Felsenstein Medical
Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 69978, Israel