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Genetic strategies used to create a mouse model of SMA. A, Mutant mice carrying a heterozygous deletion of Smn exon 7 (left) have been crossed with a
mouse line carrying, in addition to the heterozygous deletion of Smn exon 7, a 115-kb human genomic DNA transgene containing SMNc (Hu-SMNc), part
of NAIP (NAIPp), and H4F5 (right). Boxes indicate the exons and black solid line indicates the transgene. Mice carrying both the homozygous deletion of
SMN exon 7 and the human transgene display abnormal phenotypes. B, Mutant mice carrying a heterozygous deletion of Smn from exon 2 (left) have
been crossed with a mouse line carrying, in addition to the same Smn mutation, a human genomic DNA transgene containing SMNc only (Hu-SMNc,
right). Mice carrying both the homozygous deletion of Smn and the human SMNc gene transgene display abnormal phenotypes. C, Mutant mice carrying
Source: Spinal Muscular Atrophy, The Online Metabolic and Molecular Bases of Inherited Disease
two loxP sites flanking Smn exon 7 (left, SMNF7) have been crossed with a mouse line carrying, in addition to the heterozygous deletion of Smn exon 7
Valle
D, Beaudet
B, Kinzler
KW, (indicated
Antonarakis
Ballabio
A, The
Gibson
K, Mitchell
G. The Online
Metabolic andgenotype
Molecular
(SMNΔ7), a Citation:
transgene
expressing
the AL,
Cre Vogelstein
recombinase
in neurons
bySE,
N-Cre,
right).
mutant
mice carrying
the SMNF7/SMNΔ7
Bases
of
Inherited
Disease;
2014
Available
at:
http://mhmedical.com/
Accessed:
May
15,
2017
and the N-Cre transgene display an abnormal phenotype. In neuronal tissues, Cre-mediated deletion of the SMNF7 allele leads to a homozygous deletion
McGraw-Hill
Education.
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of Smn exonCopyright
7 (Cre+). ©
In 2017
nonneuronal
tissues,
SMNF7All
remains
intact because the Cre recombinase is not expressed (Cre−). LoxP sites are indicated by
arrows. Human SMNc transgene or conditional targeting of SMN restricted to neurons are able to avoid early embryonic lethality.