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RAG1/2 knockout pigs with severe combined immunodeficiency.
[severe combined immunodeficiency]
Pigs
share
many
physiological
,
biochemical
,
and
anatomical
similarities
with
humans
and
have
emerged
as
valuable
large
animal
models
for
biomedical
research
.
Considering
the
advantages
in
immune
system
resemblance
,
suitable
size
,
and
longevity
for
clinical
practical
and
monitoring
purpose
,
SCID
pigs
bearing
dysfunctional
RAG
could
serve
as
important
experimental
tools
for
regenerative
medicine
,
allograft
and
xenograft
transplantation
,
and
reconstitution
experiments
related
to
the
immune
system
.
In
this
study
,
we
report
the
generation
and
phenotypic
characterization
of
RAG
1
and
RAG
2
knockout
pigs
using
transcription
activator-like
effector
nucleases
.
Porcine
fetal
fibroblasts
were
genetically
engineered
using
transcription
activator-like
effector
nucleases
and
then
used
to
provide
donor
nuclei
for
somatic
cell
nuclear
transfer
.
We
obtained
27
live
cloned
piglets
;
among
these
piglets
,
9
were
targeted
with
biallelic
mutations
in
RAG
1
,
3
were
targeted
with
biallelic
mutations
in
RAG
2
,
and
10
were
targeted
with
a
monoallelic
mutation
in
RAG
2
.
Piglets
with
biallelic
mutations
in
either
RAG
1
or
RAG
2
exhibited
hypoplasia
of
immune
organs
,
failed
to
perform
V
(
D
)
J
rearrangement
,
and
lost
mature
B
and
T
cells
.
These
immunodeficient
RAG
1
/
2
knockout
pigs
are
promising
tools
for
biomedical
and
translational
research
.
Diseases
Validation
Diseases presenting
"mutations in either rag1"
symptom
severe combined immunodeficiency
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