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Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
The
alpha
3
subunit
of
the
neuronal
nicotinic
acetylcholine
receptor
is
widely
expressed
in
autonomic
ganglia
and
in
some
parts
of
the
brain
.
The
alpha
3
subunit
can
form
heteromultimeric
ion
channels
with
other
alpha
subunits
and
with
beta
2
and
beta
4
subunits
,
but
its
function
in
vivo
is
poorly
understood
.
We
prepared
a
null
mutation
for
the
alpha
3
gene
by
deletion
of
exon
5
and
found
that
homozygous
(
-
/
-
)
mice
lacked
detectable
mRNA
on
Northern
blotting
.
The
-
/
-
mice
survive
to
birth
but
have
impaired
growth
and
increased
mortality
before
and
after
weaning
.
The
-
/
-
mice
have
extreme
bladder
enlargement
,
dribbling
urination
,
bladder
infection
,
urinary
stones
,
and
widely
dilated
ocular
pupils
that
do
not
contract
in
response
to
light
.
Detailed
histological
studies
of
-
/
-
mice
revealed
no
significant
abnormalities
in
brain
or
peripheral
tissues
except
urinary
bladder
,
where
inflammation
was
prominent
.
Ganglion
cells
and
axons
were
present
in
bladder
and
bowel
.
Bladder
strips
from
-
/
-
mice
failed
to
contract
in
response
to
0
.
1
mM
nicotine
,
but
did
contract
in
response
to
electrical
field
stimulation
or
carbamoylcholine
.
The
number
of
acetylcholine-activated
single
-channel
currents
was
severely
reduced
in
the
neurons
of
superior
cervical
ganglia
in
-
/
-
mice
with
five
physiologically
distinguishable
nicotinic
acetylcholine
receptor
subtypes
with
different
conductance
and
kinetic
properties
in
wild-
type
mice
,
all
of
which
were
reduced
in
-
/
-
mice
.
The
findings
in
the
alpha
3
-
null
mice
suggest
that
this
subunit
is
an
essential
component
of
the
nicotinic
receptors
mediating
normal
function
of
the
autonomic
nervous
system
.
The
phenotype
in
-
/
-
mice
may
be
similar
to
the
rare
human
genetic
disorder
of
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
.
Diseases
Validation
Diseases presenting
"rare human genetic disorder"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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