Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated