Research Toolkit
For researchers interested in studying HSPB8 Myopathy, below is the list of resources currently available. While we are doing our best to make sure information in this table is up to date, please feel free to reach out to us for me most recent information.
Cells and DNA available from Coriell Cell Repository
Mice
Knock out mouse model: C57BL/6NJ-Hspb8em1(IMPC)J/Mmjax (Jackson Lab): MMRRC Strain #051194-JAX, RRID: MMRRC_051194-JAX- (Bouhy et al, 2018)
Key characteristics of the mice:
Lack of motor or sensory phenotype or CMAP abnormalities, normal behaviour and physiology. No myopathic or neuropathic phenotype
absence of atrophic or necrotic fibres in garstrocnemius via EM analysis
accumulation of pathologic mitochondria many of which presented with degenerating cristae and abnormal matrix in gastrocnemius
an increased susceptibility to heart failure under the specific context of cardiac overload (Qiu et al., 2011)