All Phenotypes Rpe65<rd12> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpe65^rd12/Rpe65^rd12	B6(A)-Rpe65^rd12/J	MGI:3513510
cx2	Rho^Tvrm1/Rho⁺ Rpe65^rd12/Rpe65^rd12	B6.Cg-Rpe65^rd12 Rho^Tvrm1	MGI:4455028
cx3	Rho^Tvrm4/Rho⁺ Rpe65^rd12/Rpe65^rd12	B6.Cg-Rpe65^rd12 Rho^Tvrm4	MGI:4455027

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

vision/eye

abnormal retina rod cell outer segment morphology ( J:94549 )

• light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

• at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent

thin retina outer nuclear layer ( J:94549 )

• at 3 months of age, the outer nuclear layer is of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the outer nuclear layer is only one-third normal thickness

increased susceptibility to age-related retinal degeneration ( J:94549 )

• ophthalmoscopic examination of the fundus reveals small white spots evenly scattered across the mutant retina by 5 months of age; by 15 months, the fundus appears granular and mottled

• at 3 months of age, both the rod outer segments and the outer nuclear layer are of normal thickness; by 7 months, the outer nuclear layer is reduced by 30%, and by 27 months the rod outer segments are almost absent and the outer nuclear layer is only one-third normal thickness

abnormal eye electrophysiology ( J:94549 )

• electroretinographic (ERG) analysis reveals progressive loss of retinal function

• the ERG b-wave amplitude of mutant mice decreases as the mice age

abnormal cone electrophysiology ( J:94549 )

• the light-adapted ERG response is delayed and exhibits progressive diminution of amplitude with the age of the mice

abnormal rod electrophysiology ( J:94549 )

• by three weeks of age, homozygous mice exhibit a poor dark-adapted (rod) ERG response

nervous system

abnormal retina rod cell outer segment morphology ( J:94549 )

• light microscopic examination of eyes of 6 week-old mutant mice reveals occasional small voids in the rod outer segments, which become progressively larger and more numerous

• at 3 months of age, the rod outer segments are of normal thickness; by 27 months the rod outer segments are almost absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 2		DOID:0110016	OMIM:204100	J:104929

Allelic Composition	Rho^Tvrm1/Rho⁺ Rpe65^rd12/Rpe65^rd12
Genetic Background	B6.Cg-Rpe65^rd12 Rho^Tvrm1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rho^Tvrm1 mutation (1 available); any Rho mutation (48 available)
Rpe65^rd12 mutation (1 available); any Rpe65 mutation (48 available)

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

vision/eye

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

retina outer nuclear layer degeneration ( J:159523 )

• at 4 weeks of age, retinas have only 5 rows of cell bodies remaining in the central outer nuclear layer

nervous system

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:159523

Allelic Composition	Rho^Tvrm4/Rho⁺ Rpe65^rd12/Rpe65^rd12
Genetic Background	B6.Cg-Rpe65^rd12 Rho^Tvrm4

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rho^Tvrm4 mutation (2 available); any Rho mutation (48 available)
Rpe65^rd12 mutation (1 available); any Rpe65 mutation (48 available)

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

Photoreceptor degeneration without exposure to bright light in Rpe65^rd12/Rpe65^rd12 Rho^Tvrm4/Rho⁺ mice

vision/eye

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

retina outer nuclear layer degeneration ( J:159523 )

• at 4 weeks of age, retinas have only 2-3 rows of cell bodies remaining in the central outer nuclear layer

nervous system

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:159523

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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