Phenotypes associated with this allele

• Allele Symbol: Del(5Pilrb1-Pilrb2)1Asw
• Allele Name: deletion, chr 5, Anand Swaroop 1
• Allele ID: MGI:8242612
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(5Pilrb1-Pilrb2)1Asw/Del(5Pilrb1-Pilrb2)1Asw	C57BL/6J-Del(5Pilrb1-Pilrb2)1Asw	MGI:8242663

Genotype
MGI:8242663

hm1

• Allelic Composition: Del(5Pilrb1-Pilrb2)1Asw/Del(5Pilrb1-Pilrb2)1Asw
• Genetic Background: C57BL/6J-Del(5Pilrb1-Pilrb2)1Asw

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

vision/eye

abnormal retina outer plexiform layer morphology ( J:363577 )

• TEM analysis of the outer plexiform layer (OPL) indicates shorter ribbon synapses in the retina at 3 months of age

abnormal eye physiology ( J:363577 )

• mice show an early but relatively stationary defect in rod and cone photoreceptor function, as revealed by electroretinograms (ERG) and defects in ribbon synapses

abnormal electroretinogram waveform feature ( J:363577 )

• retinal ERG amplitudes show a significant reduction as early as P15 that persists even at 12 months of age

• however, no overt photoreceptor degeneration is detected; retina histology shows no significant changes in photoreceptor morphology and/or lamination at 3 months of age

• moreover, no alterations are observed in retinal rods and cones, Muller glia, microglia, bipolar, amacrine and horizontal cells based on immunohistochemistry using cell-type specific markers

decreased a-wave amplitude ( J:363577 )

• dark-adapted ERG responses show a significant decrease in a-wave amplitude from P15 and remain stable at both 3 months and 12 months of age

decreased b-wave amplitude ( J:363577 )

• light- and dark-adapted ERG responses show a significant decrease in b-wave amplitude from P15 and remain stable at both 3 months and 12 months of age

nervous system

abnormal synapse morphology ( J:363577 )

• at 3 months of age, retinas show altered synapse morphology in the outer plexiform layer (OPL)

abnormal postsynaptic density morphology ( J:363577 )

• immunoblot analysis shows a significant downregulation of PSD-95 expression in the retina, but no significant change in SYP (synaptophysin) or beta-tubulin

• quantification of immunofluorescence data confirmed that levels of post-synaptic proteins (PSD-95, HCN4, and vGlut1) are significantly reduced in the retinal OPL at 3 months of age

abnormal ribbon synapse morphology ( J:363577 )

• quantification of immunofluorescence data shows a significant decrease in ribeye/CTBP2 (C-terminal binding protein 2) protein expression in the retinal outer plexiform layer (OPL) at 3 months of age

• TEM analysis of the OPL confirmed the presence of shorter ribbon synapses in the retina

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:363577 )

• retinal phenotypes are associated with reduced expression of select calcium-regulated phototransduction and synapse-associated proteins, including GCAP1 and 2, PDE6b, AIPL1, PSD95, and CTBP1, indicating dysregulation of calcium homeostasis