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SIP1 expression patterns in brain investigated by generating a SIP1-EGFP reporter knock-in mouse.
[hirschsprung disease]
A
loss
of
function
of
SIP
1
(
Smad
interacting
protein
1
)
in
the
mouse
as
well
as
in
human
of
Mowat-
Wilson
syndrome
results
in
severe
and
multiple
defects
in
neural
tissue
development
,
especially
in
the
brain
.
However
,
no
detailed
expression
analysis
of
SIP
1
during
brain
development
has
been
previously
reported
.
In
this
study
,
we
describe
the
generation
of
an
EGFP
knock-
in
reporter
mouse
for
the
Sip
1
locus
and
our
subsequent
analysis
of
SIP
1
-
EGFP
fusion
protein
expression
during
brain
development
.
SIP
1
-
EGFP
expression
was
observed
in
the
pyramidal
neurons
of
the
hippocampus
,
the
dentate
gyrus
,
and
the
postmitotic
neurons
in
the
cerebral
cortex
.
In
layer
5
of
the
cerebral
cortex
,
SIP
1
-
EGFP
expression
was
complementary
to
the
Ctip
2
-
expressing
neurons
,
most
of
which
are
thought
to
be
the
cortico-
spinal
neurons
.
This
suggested
that
SIP
1
-
EGFP
expressing
cells
might
have
the
specific
trajectory
targets
other
than
the
spinal
region
.
We
further
observed
SIP
1
-
EGFP
expression
in
oligodendrocytes
of
the
corpus
callosum
and
fimbria
,
Bergmann
glial
cells
of
the
cerebellum
,
the
olfactory
bulb
,
and
in
the
serotonergic
and
dopaminergic
neurons
of
the
raphe
nuclei
in
the
brainstem
.
These
findings
may
help
to
clarify
the
unknown
roles
of
SIP
1
in
these
cells
and
the
pathoetiology
of
Mowat-
Wilson
syndrome
.
Diseases
Validation
Diseases presenting
"sip1"
symptom
hirschsprung disease
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