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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rpe65450L
450 Leucine
MGI:3702572
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rpe65450L/Rpe65450L BALB/c MGI:4410326
cx2
 		Rpe65450L/Rpe65450L
Whrnwi/Whrnwi 		129.Cg(B6)-Whrnwi MGI:5572940
cx3
 		Lrattm1Kpal/Lrattm1Kpal
Rhotm1.1Kpal/Rho+
Rpe65450L/Rpe65450M 		involves: 129S6/SvEvTac * C57BL/6 * FVB/N MGI:4947236


Genotype
MGI:4410326
hm1
Allelic
Composition		 Rpe65450L/Rpe65450L
Genetic
Background		 BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpe65450L mutation (1 available); any Rpe65 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
thin retina outer nuclear layer ( J:154536 )
• reduced thickness of the retinal outer nuclear layer (ONL) after light (5000-lux light for 15 minutes) exposure
• antioxidants treatment (3 hours before light exposure) preserves the thickness of the ONLs
retina outer nuclear layer degeneration ( J:154536 )
• light (5000-lux light for 15 minutes)-induced retinal degeneration
• antioxidants treatment (3 hours before light exposure) ameliorated retinal degeneration




Genotype
MGI:5572940
cx2
Allelic
Composition		 Rpe65450L/Rpe65450L
Whrnwi/Whrnwi
Genetic
Background		 129.Cg(B6)-Whrnwi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpe65450L mutation (1 available); any Rpe65 mutation (48 available)
Whrnwi mutation (3 available); any Whrn mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal retina rod cell inner segment morphology ( J:210386 )
• rhodopsin is mislocalized in rod inner segments
retina photoreceptor degeneration ( J:210386 )
• mice are more susceptible to continuous moderate light exposure induced photoreceptor degeneration than controls, showing on average a 25% reduction in the number of photoreceptors after a 6 day moderate 2500 lux light exposure
• mice reared under a 1500 lux light/dark cycle develop severe photoreceptor degeneration
• however, mice do not develop retinal degeneration when reared under normal conditions
• mice exposed to one hour 2000 lux light and then dark adapted for another 7 hours in repeated cycles for 2 weeks exhibit severe photoreceptor degeneration, to a similar extent that is seen with continuous (6 day) light exposure

vision/eye
abnormal retina rod cell inner segment morphology ( J:210386 )
• rhodopsin is mislocalized in rod inner segments
retina photoreceptor degeneration ( J:210386 )
• mice are more susceptible to continuous moderate light exposure induced photoreceptor degeneration than controls, showing on average a 25% reduction in the number of photoreceptors after a 6 day moderate 2500 lux light exposure
• mice reared under a 1500 lux light/dark cycle develop severe photoreceptor degeneration
• however, mice do not develop retinal degeneration when reared under normal conditions
• mice exposed to one hour 2000 lux light and then dark adapted for another 7 hours in repeated cycles for 2 weeks exhibit severe photoreceptor degeneration, to a similar extent that is seen with continuous (6 day) light exposure
abnormal eye physiology ( J:210386 )
• photoreceptors show delayed light-activated rod transducing translocation and its activation threshold is shifted to a higher level

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Usher syndrome type 2D DOID:0110840 OMIM:611383
 J:210386




Genotype
MGI:4947236
cx3
Allelic
Composition		 Lrattm1Kpal/Lrattm1Kpal
Rhotm1.1Kpal/Rho+
Rpe65450L/Rpe65450M
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (26 available)
Rhotm1.1Kpal mutation (1 available); any Rho mutation (48 available)
Rpe65450L mutation (1 available); any Rpe65 mutation (48 available)
Rpe65450M mutation (0 available); any Rpe65 mutation (48 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Effect of genetic depletion of 11-cis-retinal production (Lrattm1Kpal/Lrattm1Kpal) on retinal degeneration in Rhotm1.1Kpal/Rho+ mice

vision/eye
decreased retina photoreceptor cell number ( J:170648 )
• dramatically reduced at P36
abnormal retina rod cell outer segment morphology ( J:170648 )
• less than in Rhotm1.1Kpal heterozygotes
retina photoreceptor degeneration ( J:170648 )
• due to increased apoptosis
retina rod cell degeneration ( J:170648 )
• less than in Rhotm1.1Kpal heterozygotes

nervous system
decreased retina photoreceptor cell number ( J:170648 )
• dramatically reduced at P36
abnormal retina rod cell outer segment morphology ( J:170648 )
• less than in Rhotm1.1Kpal heterozygotes
retina photoreceptor degeneration ( J:170648 )
• due to increased apoptosis
retina rod cell degeneration ( J:170648 )
• less than in Rhotm1.1Kpal heterozygotes




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
04/23/2024
MGI 6.23 		The Jackson Laboratory