US 11,730,150 B2
Fibrillin-1 mutations for modeling neonatal progeroid syndrome with congenital lipodystrophy
Charleen Hunt, Dumont, NJ (US); Jason Mastaitis, Yorktown Heights, NY (US); Guochun Gong, Pleasantville, NY (US); Ka-Man Venus Lai, Seattle, WA (US); Jesper Gromada, Concord, MA (US); and Aris N. Economides, Tarrytown, NY (US)
Assigned to Regeneron Pharmaceuticals, Inc., Tarrytown, NY (US)
Filed by Regeneron Pharmaceuticals, Inc., Tarrytown, NY (US)
Filed on Dec. 17, 2019, as Appl. No. 16/717,597.
Application 16/717,597 is a continuation of application No. 15/663,410, filed on Jul. 28, 2017, granted, now 10,548,302.
Claims priority of provisional application 62/368,924, filed on Jul. 29, 2016.
Prior Publication US 2020/0107527 A1, Apr. 9, 2020
This patent is subject to a terminal disclaimer.
Int. Cl. A01K 67/027 (2006.01); A61K 49/00 (2006.01); C07K 14/78 (2006.01)
CPC A01K 67/0275 (2013.01) [A61K 49/0008 (2013.01); C07K 14/78 (2013.01); A01K 2217/00 (2013.01); A01K 2217/056 (2013.01); A01K 2227/105 (2013.01); A01K 2267/0306 (2013.01)] 20 Claims
 
1. An isolated mouse one-cell stage embryo whose genome comprises a mutation in the penultimate exon of the endogenous fibrillin-1 (Fbn1) gene,
wherein the mutation results in disruption or ablation of the asprosin C-terminal cleavage product of pro-fibrillin-1,
wherein expression of the mutant Fbn1 gene results in a C-terminally truncated Fbn1 protein, and
wherein a mouse generated from the isolated mouse one-cell stage embryo exhibits decreased body weight, decreased lean mass, and decreased fat mass when compared to a wild-type mouse.