Phenotypes Associated with This Genotype

Genotype
MGI:3054803

• Allelic Composition: Aipl1^tm1Tili/Aipl1^tm1Tili
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Age-dependent retinal degeneration in Aipl1^tm1Tili/Aipl1^tm1Tili mice

vision/eye

increased susceptibility to age-related retinal degeneration ( J:92601 )

• 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

abnormal eye electrophysiology ( J:92601 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 4		DOID:0110332	OMIM:604393	J:92601