Phenotypes Associated with This Genotype

Genotype
MGI:3054824

• Allelic Composition: Aipl1^tm1Visu/Aipl1^tm1Visu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Progressive degeneration of photoreceptors in Aipl1^tm1Visu/Aipl1^tm1Visu mice

vision/eye

abnormal retina photoreceptor morphology ( J:92617 )

abnormal photoreceptor inner segment morphology ( J:92617 )

• at P8, inner segments are enlarged, disorganized, and contain vacuolar inclusions

abnormal photoreceptor outer segment morphology ( J:92617 )

• at P8, outer segments are shorter than normal, disorganized, and fragmented

retina degeneration ( J:92617 )

• 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

abnormal eye electrophysiology ( J:92617 )

• no electroretinographic response is seen at any age

nervous system

abnormal retina photoreceptor morphology ( J:92617 )

abnormal photoreceptor inner segment morphology ( J:92617 )

• at P8, inner segments are enlarged, disorganized, and contain vacuolar inclusions

abnormal photoreceptor outer segment morphology ( J:92617 )

• at P8, outer segments are shorter than normal, disorganized, and fragmented

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 4		DOID:0110332	OMIM:604393	J:92617