Phenotypes associated with this allele

• Allele Symbol: Rpe65^tm1Tmr
• Allele Name: targeted mutation 1, T Michael Redmond
• Allele ID: MGI:2181399
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpe65^tm1Tmr/Rpe65^tm1Tmr	involves: 129S1/Sv * 129X1/SvJ	MGI:5501103
hm2	Rpe65^tm1Tmr/Rpe65^tm1Tmr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3039514
cx3	Plin2^tm1Itl/Plin2^tm1Itl Rpe65^tm1Tmr/Rpe65^tm1Tmr Tyr^c-2J/Tyr^c-2J	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6	MGI:3820659
cx4	Cnga3^tm1Biel/Cnga3^tm1Biel Rpe65^tm1Tmr/Rpe65^tm1Tmr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3521968

Genotype
MGI:5501103

hm1

• Allelic Composition: Rpe65^tm1Tmr/Rpe65^tm1Tmr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

nervous system

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin almost completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• slow rod photoreceptor degeneration

vision/eye

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin almost completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• slow rod photoreceptor degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 2		DOID:0110016	OMIM:204100	J:136882

Genotype
MGI:3039514

hm2

• Allelic Composition: Rpe65^tm1Tmr/Rpe65^tm1Tmr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

vision/eye

short photoreceptor outer segment ( J:130076 )

• occurs in mice by one year of age

abnormal retina rod cell outer segment morphology ( J:51293 )

• outer segment disks are less densely packed or less abundant at 7 weeks

• by 15 weeks length of outer segment is also reduced and lack of density of disks is more obvious

• lipid inclusions can be seen by 15 weeks

disorganized photoreceptor outer segment ( J:130076 )

• is apparent in mice 4 weeks of age

photoreceptor outer segment degeneration ( J:130076 )

• outer segment layer shortens as mice age with differences visible by 12 weeks of age

retina rod cell degeneration ( J:81027 )

• number of rods declines 50% with age between 1 and 18 months

abnormal retina pigment epithelium morphology ( J:130076 )

• lipid-like inclusions form in the RPE of mice by 8 weeks of age

thin retina outer nuclear layer ( J:51293 )

• at 15 weeks the outer nuclear layer is reduced from 10-11 layers to 8-9 layers of nuclei

retina outer nuclear layer degeneration ( J:130076 )

• occurs as mice age with the thickness being half that of wild-type mice by one year of age

retina degeneration ( J:51293 )

abnormal eye physiology ( J:51293 , J:61889 )

• dark adapted retina lacks extractable rhodopsin (J:51293)

• photoreceptors are protected against light induced apoptosis (J:61889)

abnormal rod electrophysiology ( J:51293 , J:71529 , J:85796 )

• very reduced dark adapted electroretinogram (J:51293)

• continue to respond to high intensity light (J:51293)

• rod system rather than cones responsible for vision (J:71529)

• rods mimic cone function (J:71529)

• baseline circulating current of rods is much smaller than in controls (J:85796)

• lower mean maximum response to light stimulus (J:85796)

• sensitivity to light reduced (J:85796)

nervous system

short photoreceptor outer segment ( J:130076 )

• occurs in mice by one year of age

abnormal retina rod cell outer segment morphology ( J:51293 )

• outer segment disks are less densely packed or less abundant at 7 weeks

• by 15 weeks length of outer segment is also reduced and lack of density of disks is more obvious

• lipid inclusions can be seen by 15 weeks

disorganized photoreceptor outer segment ( J:130076 )

• is apparent in mice 4 weeks of age

photoreceptor outer segment degeneration ( J:130076 )

• outer segment layer shortens as mice age with differences visible by 12 weeks of age

retina rod cell degeneration ( J:81027 )

• number of rods declines 50% with age between 1 and 18 months

homeostasis/metabolism

abnormal vitamin A metabolism ( J:130076 )

• 11-cis-retinal levels are undetectable in the retinas of dark-adapted mice

• retinyl esters accumulate in the eye at a rate of 9 pmol/day through at least 40 weeks of age

pigmentation

abnormal retina pigment epithelium morphology ( J:130076 )

• lipid-like inclusions form in the RPE of mice by 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 2		DOID:0110016	OMIM:204100	J:51293 , J:61889 , J:71529 , J:81027 , J:85796

Genotype
MGI:3820659

cx3

• Allelic Composition: Plin2^tm1Itl/Plin2^tm1Itl; Rpe65^tm1Tmr/Rpe65^tm1Tmr; Tyr^c-2J/Tyr^c-2J
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6

homeostasis/metabolism

abnormal vitamin A metabolism ( J:142021 )

• at 3 to 4 months, retinyl ester accumulation is 70% of the accumulation observed in Rpe65^tm1Tmr homozygotes

Genotype
MGI:3521968

cx4

• Allelic Composition: Cnga3^tm1Biel/Cnga3^tm1Biel; Rpe65^tm1Tmr/Rpe65^tm1Tmr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

vision/eye

abnormal eye electrophysiology ( J:71529 )

• at stimuli ranging from 0.0001 to 25 cds/m2, scotopic single-flash ERGs of double homozygotes are almost identical to those of Rpe65^tm1Tmr single mutants, indicating that rods are responsible for the light responses in Rpe65^tm1Tmr mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 2		DOID:0110016	OMIM:204100	J:71529