Phenotypes Associated with This Genotype

Genotype
MGI:3039514

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

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

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