Phenotypes associated with this allele

• Allele Symbol: Rpgr^Rd9
• Allele Name: retinal degeneration 9
• Allele ID: MGI:3511481
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpgr^Rd9/Rpgr^Rd9	C57BL/6-Rpgr^Rd9	MGI:3720013
ht2	Rpgr^Rd9/Rpgr^+	C57BL/6-Rpgr^Rd9	MGI:3720012
ot3	Rpgr^Rd9/Y	C57BL/6-Rpgr^Rd9	MGI:3720014

Genotype
MGI:3720013

hm1

• Allelic Composition: Rpgr^Rd9/Rpgr^Rd9
• Genetic Background: C57BL/6-Rpgr^Rd9

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

Blond appearance of fundus and telangiectasia and vessel leakage in Rpgr^Rd9/Y and Rpgr^Rd9/Rpgr^Rd9 eyes while Rpgr^Rd9/Rpgr⁺ females show only diffuse white spots

vision/eye

abnormal ocular fundus morphology ( J:75095 , J:237833 )

♀ • fundus has a blond appearance (J:75095)

♀ (J:237833)

abnormal retina vasculature morphology ( J:237833 )

♀ • telangiectasia and some leakage from vessels in the retina

abnormal retina pigmentation ( J:237833 )

♀ • retinas show pronounced loss of pigment

decreased a-wave amplitude ( J:237833 )

♀ • electroretinogram a-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

decreased b-wave amplitude ( J:237833 )

♀ • electroretinogram b-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

cardiovascular system

abnormal retina vasculature morphology ( J:237833 )

♀ • telangiectasia and some leakage from vessels in the retina

telangiectasia ( J:237833 )

♀ • in the retina

pigmentation

abnormal retina pigmentation ( J:237833 )

♀ • retinas show pronounced loss of pigment

muscle

telangiectasia ( J:237833 )

♀ • in the retina

Genotype
MGI:3720012

ht2

• Allelic Composition: Rpgr^Rd9/Rpgr⁺
• Genetic Background: C57BL/6-Rpgr^Rd9

Blond appearance of fundus and telangiectasia and vessel leakage in Rpgr^Rd9/Y and Rpgr^Rd9/Rpgr^Rd9 eyes while Rpgr^Rd9/Rpgr⁺ females show only diffuse white spots

vision/eye

abnormal retina morphology ( J:75095 , J:237833 )

♀ • by 6 weeks retinas become mottled (J:75095)

♀ (J:237833)

Genotype
MGI:3720014

ot3

• Allelic Composition: Rpgr^Rd9/Y
• Genetic Background: C57BL/6-Rpgr^Rd9

Blond appearance of fundus and telangiectasia and vessel leakage in Rpgr^Rd9/Y and Rpgr^Rd9/Rpgr^Rd9 eyes while Rpgr^Rd9/Rpgr⁺ females show only diffuse white spots

vision/eye

abnormal ocular fundus morphology ( J:75095 , J:237833 )

♂ • fundus has a blond appearance (J:75095)

♂ (J:237833)

abnormal retina vasculature morphology ( J:237833 )

♂ • telangiectasia and some leakage from vessels in the retina

abnormal retina pigmentation ( J:237833 )

♂ • retinas show pronounced loss of pigment

thin retina outer nuclear layer ( J:237833 )

♂ • slowly progressing decrease in outer nuclear layer thickness and outer nuclear layer cell counts with age, with decreases in the superior, inferior, and temporal regions

retina outer nuclear layer degeneration ( J:75095 , J:237833 )

♂ • the outer nuclear layer is lost by 30 months (J:75095)

♂ (J:237833)

abnormal retina photoreceptor layer morphology ( J:237833 )

♂ • decrease in photoreceptor layer thickness with age such that by 24 months of age, the thickness of the photoreceptor layer is about half that at 1 month of age

♂ • slightly smaller combined length of outer plus inner segments in the superior and temporal regions in young mice and up to 12 months of age

abnormal retina rod cell outer segment morphology ( J:237833 )

♂ • levels of rhodopsin and transducing in rod outer segments are decreased

abnormal retina cone cell morphology ( J:237833 )

♂ • M-cone opsin is mislocalized within cone photoreceptors

retina degeneration ( J:237833 )

♂

decreased a-wave amplitude ( J:237833 )

♂ • electroretinogram a-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

decreased b-wave amplitude ( J:237833 )

♂ • electroretinogram b-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

abnormal cone electrophysiology ( J:237833 )

♂ • cone-driven photopic negative response is lower at all ages and is down by 40% from that at 1 month of age

cardiovascular system

abnormal retina vasculature morphology ( J:237833 )

♂ • telangiectasia and some leakage from vessels in the retina

telangiectasia ( J:237833 )

♂ • in the retina

muscle

telangiectasia ( J:237833 )

♂ • in the retina

nervous system

abnormal retina rod cell outer segment morphology ( J:237833 )

♂ • levels of rhodopsin and transducing in rod outer segments are decreased

abnormal retina cone cell morphology ( J:237833 )

♂ • M-cone opsin is mislocalized within cone photoreceptors

pigmentation

abnormal retina pigmentation ( J:237833 )

♂ • retinas show pronounced loss of pigment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 3		DOID:0110414	OMIM:300029	J:237833