Mouse Genome Informatics
involves: 129S4/SvJae * C57BL/6
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Age-dependent retinal degeneration in Aipl1tm1Tili/Aipl1tm1Tili mice

• disorganization of the outer segments of the retina and increased pycnotic nuclei are seen by 3 months
• by 8 months, more than half of the photoreceptors are lost
• in 5-6 week old mutants an increase in mean latency and a 31% decrease in the geometric mean of phototransduction is seen in an electroretinogram
• a delayed onset and slower initial rate of rise of the single photon response is seen in isolated rods

Mouse Models of Human Disease
Leber Congenital Amaurosis 4; LCA4 604393 J:92601