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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
"deficient pups"
symptom
benign recurrent intrahepatic cholestasis
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