About   Help   FAQ
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 (52 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 (52 available)
Whrnwi mutation (3 available); any Whrn mutation (46 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 (51 available)
Rpe65450L mutation (1 available); any Rpe65 mutation (52 available)
Rpe65450M mutation (2 available); any Rpe65 mutation (52 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory