MICE CONTAINING MUTATIONS, AS A RESULT OF WHICH FIBRILLIN-1 SHORTENED AT C-TERMINUS IS EXPRESSED Russian patent published in 2020 - IPC A01K67/27 A61K49/00 

Abstract RU 2721125 C1

FIELD: chemistry.

SUBSTANCE: invention relates to biochemistry, in particular to a mouse whose genome contains a mutation in the penultimate exon of the fibrillin-1 gene, to its embryonic stem (ES) cell, as well as to a method for producing the above mouse. Also disclosed is a method for screening a compound for activity which reduces symptoms similar to those of congenital lipodystrophy involving using said mouse.

EFFECT: invention enables effective modelling of neonatal progeroid syndrome with congenital lipodystrophy.

62 cl, 13 dwg, 2 tbl, 2 ex

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RU 2 721 125 C1

Authors

Hunt, Charleen

Mastaitis, Jason

Gong, Guochun

Lai, Ka-Man Venus

Gromada, Jesper

Economides, Aris, N.

Dates

2020-05-18Published

2017-07-28Filed