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Strain background modifies phenotypes in the ATP8B1-deficient mouse.
[benign recurrent intrahepatic cholestasis]
Mutations
in
ATP
8
B
1
(
FIC
1
)
underlie
cases
of
cholestatic
disease
,
ranging
from
chronic
and
progressive
(
progressive
familial
intrahepatic
cholestasis
)
to
intermittent
(
benign
recurrent
intrahepatic
cholestasis
)
.
The
ATP
8
B
1
-
deficient
mouse
serves
as
an
animal
model
of
human
ATP
8
B
1
deficiency
.
We
investigated
the
effect
of
genetic
background
on
phenotypes
of
ATP
8
B
1
-
deficient
and
wild-
type
mice
,
using
C
5
7
Bl
/
6
(
B
6
)
,
129
,
and
(
B
6
-
129
)
F
1
strain
backgrounds
.
B
6
background
resulted
in
greater
abnormalities
in
ATP
8
B
1
-
deficient
mice
than
did
129
and
/
or
F
1
background
.
ATP
8
B
1
-
deficient
pups
of
B
6
background
gained
less
weight
.
In
adult
ATP
8
B
1
-
deficient
mice
at
baseline
,
those
of
B
6
background
had
lower
serum
cholesterol
levels
,
higher
serum
alkaline
phosphatase
levels
,
and
larger
livers
.
After
challenge
with
cholate-supplemented
diet
,
these
mice
exhibited
higher
serum
alkaline
phosphatase
and
bilirubin
levels
,
greater
weight
loss
and
larger
livers
.
ATP
8
B
1
-
deficient
phenotypes
in
mice
of
F
1
and
129
backgrounds
are
usually
similar
,
suggesting
that
susceptibility
to
manifestations
of
ATP
8
B
1
deficiency
may
be
recessive
.
We
also
detected
differences
in
hepatobiliary
phenotypes
between
wild-
type
mice
of
differing
strains
.
Our
results
indicate
that
the
ATP
8
B
1
-
deficient
mouse
in
a
B
6
background
may
be
a
better
model
of
human
ATP
8
B
1
deficiency
and
highlight
the
importance
of
informed
background
strain
selection
for
mouse
models
of
liver
disease
.
Diseases
Validation
Diseases presenting
"weight loss"
symptom
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
cholangiocarcinoma
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
focal myositis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
krabbe disease
oligodontia
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
This symptom has already been validated
