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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prcdtm1Vya
targeted mutation 1, Vadim Y Arshavsky
MGI:6367736
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prcdtm1Vya/Prcdtm1Vya B6.Cg-Prcdtm1Vya MGI:6368992


Genotype
MGI:6368992
hm1
Allelic
Composition
Prcdtm1Vya/Prcdtm1Vya
Genetic
Background
B6.Cg-Prcdtm1Vya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prcdtm1Vya mutation (0 available); any Prcd mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• by P21, mice develop all retinal layers and show normal localization and abundance of outer segment proteins relative to wild-type controls
• at P40-P45, rod photoreceptors produce normal responses to light
• at 17 months of age, photoreceptor outer segments appear somewhat disorganized, while the inner retina looks normal
• rods show a defect in photoreceptor disc morphogenesis; newly forming discs are poorly aligned, often contain swollen membrane bulges, and are surrounded by numerous membrane vesicles
• at 2 months of age, extracellular vesicles accumulate in the inter-photoreceptor matrix; these vesicles emanate from the outer segment base where new discs are formed, resulting in a separation of the inner/outer segment juncture
• at 2 months of age, many rods exhibit an uneven outer segment diameter
• at 2 months of age, many rods exhibit an uneven outer segment diameter
• newly forming discs do not flatten properly, resulting in the budding of disc-derived extracellular vesicles at the site of disc morphogenesis, which accumulate in the inter-photoreceptor matrix
• however, nascent discs do eventually flatten as they mature and enclose, and the resulting rod outer segments produce normal responses to light
• at >P21, mice exhibit a slow progressive degeneration of rod photoreceptors, with ~36% of photoreceptors lost by 17 months of age
• however, no decrease in cone cell numbers is observed up to 17 months of age
• immunogold analysis suggests that RPE, normally involved in phagocytosis of shed outer segment material, lacks the capacity to clear the disc-derived vesicles from the inter-photoreceptor matrix
• outer nuclear layer (ONL) thickness is normal at P21 but significantly decreased at 17 months of age

nervous system
• activated microglia show a unique pattern of migration to the site of extracellular vesicle accumulation; the vast majority of phagocytes observed in the photoreceptor layer are resident microglia with only 4% being monocyte-derived macrophages
• whereas many microglial cells are found in the ONL at P21, most microglia settle at the inner/outer segment junction by 4 months of age where they actively phagocytize vesicles
• at 17 months of age, photoreceptor outer segments appear somewhat disorganized, while the inner retina looks normal
• rods show a defect in photoreceptor disc morphogenesis; newly forming discs are poorly aligned, often contain swollen membrane bulges, and are surrounded by numerous membrane vesicles
• at 2 months of age, extracellular vesicles accumulate in the inter-photoreceptor matrix; these vesicles emanate from the outer segment base where new discs are formed, resulting in a separation of the inner/outer segment juncture
• at 2 months of age, many rods exhibit an uneven outer segment diameter
• at 2 months of age, many rods exhibit an uneven outer segment diameter
• newly forming discs do not flatten properly, resulting in the budding of disc-derived extracellular vesicles at the site of disc morphogenesis, which accumulate in the inter-photoreceptor matrix
• however, nascent discs do eventually flatten as they mature and enclose, and the resulting rod outer segments produce normal responses to light
• at >P21, mice exhibit a slow progressive degeneration of rod photoreceptors, with ~36% of photoreceptors lost by 17 months of age
• however, no decrease in cone cell numbers is observed up to 17 months of age

immune system
• activated microglia show a unique pattern of migration to the site of extracellular vesicle accumulation; the vast majority of phagocytes observed in the photoreceptor layer are resident microglia with only 4% being monocyte-derived macrophages
• whereas many microglial cells are found in the ONL at P21, most microglia settle at the inner/outer segment junction by 4 months of age where they actively phagocytize vesicles

pigmentation
• immunogold analysis suggests that RPE, normally involved in phagocytosis of shed outer segment material, lacks the capacity to clear the disc-derived vesicles from the inter-photoreceptor matrix

hematopoietic system
• activated microglia show a unique pattern of migration to the site of extracellular vesicle accumulation; the vast majority of phagocytes observed in the photoreceptor layer are resident microglia with only 4% being monocyte-derived macrophages
• whereas many microglial cells are found in the ONL at P21, most microglia settle at the inner/outer segment junction by 4 months of age where they actively phagocytize vesicles





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory