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Phenotypes Associated with This Genotype
Genotype
MGI:3525209
Allelic
Composition
Aipl1tm1Mad/Aipl1tm1Mad
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aipl1tm1Mad mutation (0 available); any Aipl1 mutation (7 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Leber Congenital Amaurosis 4; LCA4 604393 J:94655


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory