Mouse models carrying a knock-out mutation of the QPCTL-gene

摘要

A knock-out non-human animal, in particular a mouse, carrying a QPCTL knock-out mutation. Additionally, respective cells and cell lines and methods and compositions for evaluating agents that affect QPCTL, for use in compositions for the treatment of QPCTL-related diseases are disclosed.

主权项

1. A mouse or rat comprising cells containing a DNA QPCTL gene carrying a knock-out mutation, wherein
(A) the mouse or rat carries at least one QPCTL allele where the QPCTL gene carries a Thymidine to Adenosine (T→A) nucleotide substitution at nucleotide position 442 of SEQ ID NO. 1, leading to the introduction of a stop codon into the QPCTL open reading frame; or (B) the QPCTL gene carries at least one mutation, results in the mutation of at least one amino residue that is responsible for complexation of the catalytic active zinc ion; and wherein the mutation in the QPCTL gene comprising SEQ ID NO: 2 or SEQ ID NO: 5 results in the mutation of at least one amino acid residue selected from the group consisting of Asp187, Glu227, and His352.