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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rpe65rd12
retinal degeneration 12
MGI:2388240
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rpe65rd12/Rpe65rd12 B6(A)-Rpe65rd12/J MGI:3513510
cx2
 		RhoTvrm1/Rho+
Rpe65rd12/Rpe65rd12 		B6.Cg-Rpe65rd12 RhoTvrm1 MGI:4455028
cx3
 		RhoTvrm4/Rho+
Rpe65rd12/Rpe65rd12 		B6.Cg-Rpe65rd12 RhoTvrm4 MGI:4455027


Genotype
MGI:3513510
hm1
Allelic
Composition		 Rpe65rd12/Rpe65rd12
Genetic
Background		 B6(A)-Rpe65rd12/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpe65rd12 mutation (1 available); any Rpe65 mutation (52 available)
♀ 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
retina spots ( J:348118 )
• white retinal spots at 5 months of age
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




Genotype
MGI:4455028
cx2
Allelic
Composition		 RhoTvrm1/Rho+
Rpe65rd12/Rpe65rd12
Genetic
Background		 B6.Cg-Rpe65rd12 RhoTvrm1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
RhoTvrm1 mutation (1 available); any Rho mutation (51 available)
Rpe65rd12 mutation (1 available); any Rpe65 mutation (52 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




Genotype
MGI:4455027
cx3
Allelic
Composition		 RhoTvrm4/Rho+
Rpe65rd12/Rpe65rd12
Genetic
Background		 B6.Cg-Rpe65rd12 RhoTvrm4
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
RhoTvrm4 mutation (2 available); any Rho mutation (51 available)
Rpe65rd12 mutation (1 available); any Rpe65 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Photoreceptor degeneration without exposure to bright light in Rpe65rd12/Rpe65rd12 RhoTvrm4/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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory