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Phenotypes Associated with This Genotype
Genotype
MGI:5755292
Allelic
Composition
Pcaretm1Kpal/Pcaretm1Kpal
Genetic
Background
involves: C57BL/6J * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcaretm1Kpal mutation (0 available); any Pcare mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures
• IHC analysis revealed significant rhodopsin staining in the inner segment (IS), suggesting deficient transport of proteins to the OS
• at 3 weeks of age, packets of IS containing mitochondria are found immediately adjacent to the RPE cell layer at a significant distance from their normal location
• significantly shorter OS region at 3 weeks of age
• highly disorganized outer segments as early as 3 weeks of age
• whirls of disc membranes are found in membranous structures surrounded by what appears to be plasma membranes
• nearly complete loss of OS by 24 weeks of age, when the OS is only two nuclei thick
• IHC analysis revealed reduced OPN1SW staining consistent with degeneration of cone OS
• at 3 weeks of age, RPE cells show massive accumulation of undigested material
• RPE cells appear to have either increased levels of pigmentation or contain large numbers of phagosomes with disc membrane material
• necrotic RPE cells are occasionally found by 8 weeks of age
• 78% decline in 11-cis-retinal in dark-adapted homozygotes relative to wild-type controls
• only 16% of retinal pigment detected at 3 weeks of age
• IHC analysis revealed significant rhodopsin staining in the ONL, suggesting deficient transport of proteins to the OS
• outer nuclear layer (ONL) thickness is reduced by ~25% as early as 4 weeks of age
• ONL thickness is rapidly and severely reduced with increasing age
• by 24 weeks, the ONL is only two nuclei thick
• rapid degeneration of the ONL after 4 weeks, with 42% and 81% lost by 8 and 24 weeks of age, respectively
• early-onset and rapid retinal degeneration
• infiltration of the outer retina by activated microglia as early as 3 weeks of age, with increasing numbers at later time points
• only 4 week old homozygotes exhibit detectable a-waves at the highest stimulus intensities
• by 8 weeks of age, ERG responses to increasing intensities of light are virtually flat, unlike in wild-type controls
• amplitudes of both rod photoreceptor cell-evoked scotopic a-waves and cone photoreceptor cell-dependent photopic a-waves are reduced by 8 weeks of age
• amplitudes of both rod photoreceptor cell-evoked scotopic b-waves and cone photoreceptor cell-dependent photopic b-waves are reduced by 8 weeks of age
• reduced photopic responses at 4 and 8 weeks of age
• reduced scotopic responses at 4 and 8 weeks of age

nervous system
• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures
• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points
• IHC analysis revealed significant rhodopsin staining in the inner segment (IS), suggesting deficient transport of proteins to the OS
• at 3 weeks of age, packets of IS containing mitochondria are found immediately adjacent to the RPE cell layer at a significant distance from their normal location
• significantly shorter OS region at 3 weeks of age
• highly disorganized outer segments as early as 3 weeks of age
• whirls of disc membranes are found in membranous structures surrounded by what appears to be plasma membranes
• nearly complete loss of OS by 24 weeks of age, when the OS is only two nuclei thick
• IHC analysis revealed reduced OPN1SW staining consistent with degeneration of cone OS

pigmentation
• at 3 weeks of age, RPE cells show massive accumulation of undigested material
• RPE cells appear to have either increased levels of pigmentation or contain large numbers of phagosomes with disc membrane material
• necrotic RPE cells are occasionally found by 8 weeks of age
• 78% decline in 11-cis-retinal in dark-adapted homozygotes relative to wild-type controls
• only 16% of retinal pigment detected at 3 weeks of age

immune system
• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points

hematopoietic system
• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points

cellular
• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 54 DOID:0110364 OMIM:613428
J:220866


Contributing Projects:
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
05/28/2024
MGI 6.13
The Jackson Laboratory