Jax Labs eBook - 24


of clinically-relevant phenotypes to
post-mortem pathology analysis,
preclinical researchers can ascertain
critical insights into the efficacy and
safety of the candidate treatment,
refine it (if necessary), and increase
its possibility of success in the clinical
JAX provides researchers worldwide
with access to over 11,000 models,
including disease phenotype models
and unique models developed for
specific studies, and preclinical in
vivo studies to reach their preclinical
milestones. To learn more about the
various model models and preclinical in
vivo studies available from JAX to aid in
your rare disease research, visit
jax.org/rare-disease. nn

JAX Rare Disease Page
Rare and Orphan Disease Center
Blog: Rare disease and human "knockouts"
Webinar: Achieving Reproducible Mouse Studies

Bogdanik LP, Osborne MA, Davis C, Martin WP, Austin A, Rigo
F, Bennett CF, Lutz CM. 2015. Systemic, postsymptomatic
antisense oligonucleotide rescues motor unit maturation
delay in a new mouse model for type II/III spinal muscular
atrophy. Proc Natl Acad Sci U S A. 112(43): E5863-72. [PMID:
Boulding H, Webber C. 2012. Large-scale objective association
of mouse phenotypes with human symptoms through
structural variation identified in patients with developmental
disorders. Hum Mutat. 33(5):874-83. [PMID: 22396327]
Hatzipetros T, Bogdanik LP, Tassinari VR, Kidd JD, Moreno AJ,
Davis C, Osborne M, Austin A, Vieira FG, Lutz C, Perrin S.
2014. C57BL/6J congenic Prp-TDP43A315T mice develop
progressive neurodegeneration in the myenteric plexus of
the colon without exhibiting key features of ALS. Brain Res.
10; 1584:59-72. [PMID: 24141148]
Ittisoponpisan S, Alhuzimi E, Sternberg MJ, David A. 2017.
Landscape of Pleiotropic Proteins Causing Human Disease:
Structural and System Biology Insights. Hum Mutat.
38(3):289-296. [PMID: 27957775]
Ludolph AC, Bendotti C, Blaugrund E, Chio A, Greensmith
L, Loeffler JP, Mead R, Niessen HG, Petri S, Pradat PF,
Robberecht W, Ruegg M, Schwalenstöcker B, Stiller D,
van den Berg L, Vieira F, von Horsten S. 2010. Guidelines
for preclinical animal research in ALS/MND: A consensus
meeting. Amyotroph Lateral Scler. 11(1-2):38-45. [PMID:
Lutz C. 2018. Mouse models of ALS: Past, present and future.
Brain Res. 15;1693 (Pt A):1-10. [PMID: 29577886]

24 | GENengnews.com

McGary KL, Park TJ, Woods JO, Cha HJ, Wallingford JB,
Marcotte EM. 2010. Systematic discovery of nonobvious
human disease models through orthologous phenotypes.
Proc Natl Acad Sci U S A. 107(14):6544-9. [PMID: 20308572]
Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R,
Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY.
2006. Learning and memory and synaptic plasticity are
impaired in a mouse model of Rett syndrome. J Neurosci.
26(1):319-27. [PMID: 16399702]
Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell
J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey
RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R,
Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI,
Sidransky E. 2017. Glucocerebrosidase haploinsufficiency in
A53T →-synuclein mice impacts disease onset and course.
Mol Genet Metab. 122(4):198-208. [PMID: 29173981]
Vaquer G, Rivière F, Mavris M, Bignami F, Llinares-Garcia
J, Westermark K, Sepodes B. 2013. Animal models for
metabolic, neuromuscular and ophthalmological rare
diseases. Nat Rev Drug Discov. 12(4):287-305. [PMID:
Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman
JA, Ponting CP. 2009. Forging links between human mental
retardation-associated CNVs and mouse gene knockout
models. PLoS Genet. 5(6):e1000531. [PMID: 19557186]
Wegorzewska I, Bell S, Cairns NJ, Miller TM, Baloh RH. 2009.
TDP-43 mutant transgenic mice develop features of ALS and
frontotemporal lobar degeneration. Proc Natl Acad Sci U S
A. 3;106(44):18809-14. [PMID: 19833869]

https://www.jax.org/jax-mice-and-services/solutions-by-therapeutic-area/rare-diseases https://www.jax.org/research-and-faculty/research-centers/rare-and-orphan-disease-center https://www.jax.org/news-and-insights/2018/february/rare-disease-and-human-knockouts https://www.jax.org/education-and-learning/education-calendar/webinars/on-demand/on-demand-achieving-reproducible-mouse-studies https://www.jax.org/jax-mice-and-services/solutions-by-therapeutic-area/rare-diseases http://www.GENengnews.com

Jax Labs eBook

Table of Contents for the Digital Edition of Jax Labs eBook

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