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Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3.
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This
study
aimed
to
establish
a
transgenic
mouse
model
of
corneal
dystrophy
(
CD
)
overexpressing
the
human
transforming
growth
factor
,
β-induced
,
68
kDa
(
TGFBI
,
also
known
as
BIGH
3
)
gene
.
A
purified
and
linearized
recombinant
plasmid
carrying
the
expression
cassette
BIGH
3
‑
IRES‑EGFP
was
microinjected
into
the
pronuclei
of
C
5
7
BL
/
6
J
mouse
fertilized
eggs
under
the
control
of
the
phosphoglycerate
kinase
(
PGK
)
promoter
.
The
expression
of
human
BIGH
3
in
the
transgenic
mice
was
confirmed
by
PCR
using
DNA
extracted
from
tail
tissue
.
Four
founder
transgenic
mice
were
identified
by
PCR
and
the
increased
expression
of
BIGH
3
was
observed
in
the
corneas
of
the
transgenic
mice
by
RT-PCR
and
western
blot
analysis
.
The
abnormal
corneas
with
central
opacity
were
observed
in
the
transgenic
mice
by
corneal
photography
.
We
concluded
that
the
exogenous
gene
,
BIGH
3
,
was
integrated
successfully
into
the
mouse
genome
through
microinjection
.
In
addition
,
the
phenotype
observed
in
this
BIGH
3
transgenic
mouse
model
was
similar
to
CD
.
Therefore
,
this
transgenic
model
may
prove
useful
in
the
investigation
of
the
pathogenesis
of
CD
.