Mouse Genome Informatics
hm
    Aipl1tm1Mad/Aipl1tm1Mad
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• an increase in Muller cell reactive gliosis is seen
• the bipolar cells appear expanded or disorganized
• cells counts indicate an increase in the proportion of bipolar cells greater than expected from rod loss alone (22% vs 16% expected from rod loss)
• photoreceptor numbers are about 13% of wild-type, exceeding the predicted loss of rods alone
• the number of cones is reduced
• at P12 cone morphology is abnormal
• a central to peripheral loss of photoreceptors was seen beginning at P12
• cell counts indicate a loss of 70% cells in the retina through rod death
• at P12 the outer nuclear layer is thinner than normal
• at P12, ribbon synapse formation in the outer plexiform layer is disrupted
• electroretinography shows less than 1% of normal rod activity with both the a- and b-waves absent

nervous system
• an increase in Muller cell reactive gliosis is seen
• photoreceptor numbers are about 13% of wild-type, exceeding the predicted loss of rods alone
• the number of cones is reduced
• the bipolar cells appear expanded or disorganized
• cells counts indicate an increase in the proportion of bipolar cells greater than expected from rod loss alone (22% vs 16% expected from rod loss)
• at P12 cone morphology is abnormal
• a central to peripheral loss of photoreceptors was seen beginning at P12
• cell counts indicate a loss of 70% cells in the retina through rod death

Mouse Models of Human Disease
OMIM IDRef(s)
Leber Congenital Amaurosis 4; LCA4 604393 J:94655