The present invention relates to CLN5 nucleic acid and protein variants
and functional derivatives, homologues and analogues thereof, together
with cellular expression systems, and uses for same. The present
invention also provides genetically modified mammalian animals and
methods of use thereof. More particularly, the present invention relates
to mammalian animals modified to express a mutation in the CLN5 gene, the
expression of which variant CLN5 gene induces or otherwise facilitates
the onset or progression of a disease condition, and to methods of use
thereof. The animals and variant molecules and cells of the present
invention are useful in a wide range of applications including, but not
limited to, providing a means of diagnosis and means of screening for
proteinaceous and non-proteinaceous molecular modulators for use in
therapeutic and/or prophylactic applications.