Disease models

Retinitis Pigmentosa

Retinis Pigmentosa (RP) is a group of inherited diseases that result in retinal dysfunction and gradual photoreceptor loss. Mice with mutations known to cause the disease in human patients provide a valuable model to study and test gene therapy candidates striving to maintain visual function.

At Experimentica we offer studies with Pde6b^rd1 and Rho^P23H (B6.129S6(Cg)-Rho^tm1.1Kpal/J) mouse models. Pde6b^rd1 mice homozygous for the rd1 mutation show an early onset of severe retinal degeneration due to a murine viral insert and a second nonsense mutation in exon 7 of the Pde6b gene (Bowes et al.). P23H mice (The Jackson Laboratory Strain #:017628) carry the P23H mutation in the rod opsin gene (proline to histidine at codon 23), one of the most common causes of autosomal dominant retinitis pigmentosa (adRP). Heterozygous mice mimic the progressive retinal degeneration seen in patients, with early shortening of rod outer segments and photoreceptor loss by postnatal day 63. Homozygous mice display a more severe phenotype, including rapid degeneration and near-complete loss of photoreceptors by day 63 (Sakami et al.). 

Retinal morphology is monitored utilizing spectral-domain optical coherence tomography (SD-OCT), while visual function is evaluated using flash electroretinography (fERG) and optomotor response (OMR). These non-invasive techniques enable comprehensive monitoring of disease progression with longer follow-up periods. Additionally, we provide histology and immunohistochemical stainings, enabling detailed analysis of tissue morphology and molecular markers to assess disease progression and treatment efficacy.

Scientific excellence in every model

Related services