Mouse Genome Informatics
hm
    Aipl1tm1Visu/Aipl1tm1Visu
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Progressive degeneration of photoreceptors in mice lacking Aipl1

vision/eye
• at P8, inner segments are enlarged, disorganized, and contain vacuolar inclusions
• at P8, outer segments are shorter than normal, disorganized, and fragmented
• degeneration can be detected at P12 with the thickness of the photorecptor layer reduced by half on P14, only a single layer left on P18, and complete loss by 4 weeks of age
• degeneration proceeds from the center out
• no electroretinographic response is seen at any age

nervous system
• at P8, inner segments are enlarged, disorganized, and contain vacuolar inclusions
• at P8, outer segments are shorter than normal, disorganized, and fragmented

Mouse Models of Human Disease
OMIM IDRef(s)
Leber Congenital Amaurosis 4; LCA4 604393 J:92617