Phenotypes Associated with This Genotype

Genotype
MGI:3038416

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

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

Light micrographs of retinal sections of wild-type and Rpgr^tm1Tili/Rpgr^tm1Tili mice.

vision/eye

abnormal retina morphology ( J:61371 )

♀

short photoreceptor outer segment ( J:61371 )

♀ • outer segment length is reduced at 6 months of age

abnormal retina rod cell outer segment morphology ( J:61371 )

♀ • rhodopsins are not appreciably mislocalized but are reduced in the outer segments

abnormal retina cone cell morphology ( J:61371 )

♀ • blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions

retina photoreceptor degeneration ( J:61371 )

♀ • substantial loss of photoreceptor cells by 6 months

retina cone cell degeneration ( J:82755 )

♀ • loss of nearly all cones by 2 years of age

retina rod cell degeneration ( J:82755 )

♀ • loss of 2/3 of rods by 2 years of age

thin retina outer nuclear layer ( J:61371 )

♀ • thickness of the outer nuclear layer is reduced at 6 months of age

retina degeneration ( J:61371 )

♀ • retinal degeneration apparently under way by 2 months of age

♀ • reduction in photoreceptor nuclear layer thickness

♀ • newly formed disk membranes are disorganized

♀ • connecting cilia are normal

abnormal eye physiology ( J:61371 )

♀ • retinal function normal at 30 days

♀ • abnormal function appears in conjunction with morphological degeneration

nervous system

short photoreceptor outer segment ( J:61371 )

♀ • outer segment length is reduced at 6 months of age

abnormal retina rod cell outer segment morphology ( J:61371 )

♀ • rhodopsins are not appreciably mislocalized but are reduced in the outer segments

abnormal retina cone cell morphology ( J:61371 )

♀ • blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions

retina photoreceptor degeneration ( J:61371 )

♀ • substantial loss of photoreceptor cells by 6 months

retina cone cell degeneration ( J:82755 )

♀ • loss of nearly all cones by 2 years of age

retina rod cell degeneration ( J:82755 )

♀ • loss of 2/3 of rods by 2 years of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 3		DOID:0110414	OMIM:300029	J:61371
X-linked cone-rod dystrophy 1		DOID:0111008	OMIM:304020	J:61371