Mouse Genome Informatics
hm1
    Plin2tm1Itl/Plin2tm1Itl
involves: 129S6/SvEvTac * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
N
• despite disruptions in eye physiology, eye morphology is normal (J:142021)
• at 1 year of age, mice exhibit attenuated electroretinogram responses compared to wild-type mice affecting both a- and b-waves under scotopic conditions and b-waves under photopic conditions
• Background Sensitivity: delayed dark adaptation is more prominent on a mixed BALB/c background then on a mixed C57BL/6 background

homeostasis/metabolism
• under dark-adapted conditions, mice exhibit a decrease in all-trans-retinal but slower clearance of all-trans retinal and all-trans retinol compared to in wild-type mice results in a 20% increase in all-trans-retinal levels immediately after light illumination and a 40% increase 15 minutes after illumination
• newly formed retinyl esters assemble into more aggregates than in wild-type mice and these aggregates are highly mobile unlike in wild-type cells
• however, accumulation of A2E and iso-A2E is normal


Mouse Genome Informatics
hm2
    Plin2tm1Itl/Plin2tm1Itl
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• Background Sensitivity: delayed dark adaptation is less prominent on a mixed C57BL/6 background then on a mixed BALB/c background


Mouse Genome Informatics
cx3
    Plin2tm1Itl/Plin2tm1Itl
Rpe65tm1Tmr/Rpe65tm1Tmr
Tyrc-2J/Tyrc-2J

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• at 3 to 4 months, retinyl ester accumulation is 70% of the accumulation observed in Rpe65tm1Tmr homozygotes