Phenotypes Associated with This Genotype

Genotype
MGI:2655715

• Allelic Composition: Rpgrip1^tm1Tili/Rpgrip1^tm1Tili
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Ultrastructural examination of Rpgrip1^tm1Tili/Rpgrip1^tm1Tili mouse photoreceptors

vision/eye

abnormal photoreceptor outer segment morphology ( J:82755 )

• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation

retina photoreceptor degeneration ( J:82755 )

• near complete loss of photoreceptor cells by 3 months of age

abnormal cone electrophysiology ( J:82755 )

• at 20-30 days of age, cone ERGs show reduced amplitude

abnormal rod electrophysiology ( J:82755 )

• at 20-30 days of age, dark-adapted (rod) ERG analysis shows a greatly reduced maximum amplitude and a reduced sensitivity in mutants

nervous system

abnormal photoreceptor outer segment morphology ( J:82755 )

• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation

retina photoreceptor degeneration ( J:82755 )

• near complete loss of photoreceptor cells by 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 6		DOID:0110329	OMIM:613826	J:82755