Phenotypes associated with this allele

• Allele Symbol: Pnpla2^em1Dong
• Allele Name: targeted mutation 1, Lijin Dong
• Allele ID: MGI:8282380
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnpla2^em1Dong/Pnpla2^em1Dong	C57BL/6J-Pnpla2^em1Dong/Dong	MGI:8282451
ht2	Pnpla2^em1Dong/Pnpla2^+	C57BL/6J-Pnpla2^em1Dong/Dong	MGI:8283455

Genotype
MGI:8282451

hm1

• Allelic Composition: Pnpla2^em1Dong/Pnpla2^em1Dong
• Genetic Background: C57BL/6J-Pnpla2^em1Dong/Dong

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

pigmentation

abnormal retina pigment epithelium morphology ( J:378347 )

• Enlargement of the retinal pigment epithelium apical processes region and cytoplasmic lipid deposits accumulated in the retinal pigment epithelium at 3 months

homeostasis/metabolism

abnormal fatty acids level ( J:378347 )

• retinal extracts from homozygotes have decreased phospholipase A2 activity to slightly more than half that of wildtype, but this activity was not ablated proving the existence of other sources of phospholipase A2 activity in the retina. Although retinal extracts from homozygotes were found to have a normal fatty acid profile, there was increased levels of lysophosphatidyl choline-DHA and lysophosphatidyl ethanolamine-DHA but a lack of phosphatidylserine-containing DHA

vision/eye

abnormal retina photoreceptor morphology ( J:378347 )

• Rhodopsin and opsin levels are a quarter of normal levels in homozygotes at 3 months of age and assessment of the photoreceptor ribbon synapse found that rod bipolar cell dendrites are retracted toward their cell bodies.

abnormal photoreceptor outer segment disc membrane morphology ( J:378347 )

• At 3 months of age the photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked in homozygotes but heterozygotes do not show this phenotype until a later time point.

photoreceptor outer segment degeneration ( J:378347 )

• at 3 months of age the outer segment membrane discs are unevenly arranged and slightly irregularly stacked

abnormal retina pigment epithelium morphology ( J:378347 )

• Enlargement of the retinal pigment epithelium apical processes region and cytoplasmic lipid deposits accumulated in the retinal pigment epithelium at 3 months

thin retina outer nuclear layer ( J:378347 )

• at 3 months of age

retina outer nuclear layer degeneration ( J:378347 )

retina degeneration ( J:378347 )

decreased a-wave amplitude ( J:378347 )

• Electroretinogram the average ERG a-wave amplitude is decreased at 3 months in homozygotes, but the b-wave is not statistically different consistent with rod cell functional loss but not cone cell functional loss

abnormal rod electrophysiology ( J:378347 )

nervous system

abnormal retina photoreceptor morphology ( J:378347 )

• Rhodopsin and opsin levels are a quarter of normal levels in homozygotes at 3 months of age and assessment of the photoreceptor ribbon synapse found that rod bipolar cell dendrites are retracted toward their cell bodies.

abnormal photoreceptor outer segment disc membrane morphology ( J:378347 )

• At 3 months of age the photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked in homozygotes but heterozygotes do not show this phenotype until a later time point.

photoreceptor outer segment degeneration ( J:378347 )

• at 3 months of age the outer segment membrane discs are unevenly arranged and slightly irregularly stacked

mortality/aging

premature death ( J:378347 )

• homozygotes die by 4 months of age

Genotype
MGI:8283455

ht2

• Allelic Composition: Pnpla2^em1Dong/Pnpla2⁺
• Genetic Background: C57BL/6J-Pnpla2^em1Dong/Dong

homeostasis/metabolism

abnormal fatty acids level ( J:378347 )

• retinal extracts at 3 months of age have statistically decreased phospholipase A2 activity

nervous system

abnormal retina photoreceptor morphology ( J:378347 )

• rhodopsin and opsin levels were found decreased to half normal in heterozygotes at 3 months of age

abnormal photoreceptor outer segment disc membrane morphology ( J:378347 )

• by 7 months of age photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked

photoreceptor outer segment degeneration ( J:378347 )

• at 7 months of age, but not 3 months, photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked

vision/eye

abnormal retina photoreceptor morphology ( J:378347 )

• rhodopsin and opsin levels were found decreased to half normal in heterozygotes at 3 months of age

abnormal photoreceptor outer segment disc membrane morphology ( J:378347 )

• by 7 months of age photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked

photoreceptor outer segment degeneration ( J:378347 )

• at 7 months of age, but not 3 months, photoreceptor outer segments have unevenly arranged membrane disks that are slightly irregularly stacked

thin retina outer nuclear layer ( J:378347 )

• by 3 months of age progressing in severity by 7 months

retina outer nuclear layer degeneration ( J:378347 )

decreased a-wave amplitude ( J:378347 )

• by 3 months of age

decreased b-wave amplitude ( J:378347 )

• at 7 months of age but not 3 months of age