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Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.
[monosomy 21]
Copy-number
variation
in
the
human
genome
can
be
disease-causing
or
phenotypically
neutral
.
This
type
of
genetic
rearrangement
associated
with
human
chromosome
21
(
Hsa
21
)
underlies
partial
Monosomy
21
and
Trisomy
21
.
Mental
retardation
is
a
major
clinical
manifestation
of
partial
Monosomy
21
.
To
model
this
human
chromosomal
deletion
disorder
,
we
have
generated
novel
mouse
mutants
carrying
heterozygous
deletions
of
the
2
.
3
-
and
1
.
1
-
Mb
segments
on
mouse
chromosome
10
(
Mmu
10
)
and
Mmu
17
,
respectively
,
which
are
orthologous
to
the
regions
on
human
21
q
22
.
3
,
using
Cre
/
loxP-mediated
chromosome
engineering
.
Alterations
of
the
transcriptional
levels
of
genes
within
the
deleted
intervals
reflect
gene
-dosage
effects
in
the
mutant
mice
.
The
analysis
of
cognitive
behaviors
shows
that
the
mutant
mice
carrying
the
deletion
on
either
Mmu
10
or
Mmu
17
are
impaired
in
learning
and
memory
.
Therefore
,
these
mutants
represent
mouse
models
for
Monosomy
21
-
associated
mental
retardation
,
which
can
serve
as
a
powerful
tool
to
study
the
molecular
mechanism
underlying
the
clinical
phenotype
and
should
facilitate
efforts
to
identify
the
haploinsufficient
causative
genes
.
