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Phenotypes Associated with This Genotype
Genotype
MGI:3838535
Allelic
Composition
Prom1tm1Pec/Prom1tm1Pec
Genetic
Background
B6.129-Prom1tm1Pec
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prom1tm1Pec mutation (0 available); any Prom1 mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• retinal gliosis is detected at P20
• by 6 months of age the diameters of large vessels and the capillary density are reduced
• however, no differences in retinal vasculature are detected in mice at 1 month of age
• degeneration of both rod and cone outer segments occurs simultaneously
• disorganized distribution of cone opsin with abnormal accumulation in the outer nuclear layer
• at P12 disk membranes are underdeveloped and morphologically abnormal
• after P20 disorganization of disk membranes becomes progressively worse
• by 7 months of age virtually no normal outer segments are present
• at P20 the outer segment is shorter than normal
• ectopic localization of rhodosin at P20
• at P12 disk membranes are underdeveloped and morphologically abnormal
• after P20 disorganization of disk membranes becomes progressively worse
• by 7 months of age virtually no normal outer segments are present
• by P15 increased apoptosis is seen in the outer nuclear layer with most photoreceptors in the outer nuclear layer apoptotic by P20
• increase in apoptosis is independent of light exposure
• at 6 months of age retinal pigment epithelial cells are slightly abnormal but present
• loss of retinal pigmentation is seen in several areas of the retina at 6 months of age
• progressive degeneration of the outer nuclear layer starting after P15
• by 6 months of age only 2 or 3 rows of photoreceptors remain in the outer nuclear layer
• by 12 months of age the outer nuclear layer is absent
• no significant changes are seen in any layer of the retina other than the outer nuclear layer
• at 1 month of age the amplitude of the cone responses is reduced by about 50% compared to controls and the sensitivity of these responses is also reduced
• at 6 months of age cone responses are almost completely absent
• at 1 month of age at low light intensities the amplitude of rod response is reduced by about 50% compared to controls and the amplitude peak is shifted to the right indicating decreased sensitivity of the rods
• at 1 month of age at higher light intensities the regular a-wave is absent and the oscillatory potentials are reduced
• at 6 months of age rod responses are almost completely absent

cardiovascular system
• by 6 months of age the diameters of large vessels and the capillary density are reduced
• however, no differences in retinal vasculature are detected in mice at 1 month of age

nervous system
• degeneration of both rod and cone outer segments occurs simultaneously
• disorganized distribution of cone opsin with abnormal accumulation in the outer nuclear layer
• at P12 disk membranes are underdeveloped and morphologically abnormal
• after P20 disorganization of disk membranes becomes progressively worse
• by 7 months of age virtually no normal outer segments are present
• at P20 the outer segment is shorter than normal
• ectopic localization of rhodosin at P20
• at P12 disk membranes are underdeveloped and morphologically abnormal
• after P20 disorganization of disk membranes becomes progressively worse
• by 7 months of age virtually no normal outer segments are present
• by P15 increased apoptosis is seen in the outer nuclear layer with most photoreceptors in the outer nuclear layer apoptotic by P20
• increase in apoptosis is independent of light exposure

pigmentation
• at 6 months of age retinal pigment epithelial cells are slightly abnormal but present
• loss of retinal pigmentation is seen in several areas of the retina at 6 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 41 DOID:0110376 OMIM:612095
J:146585


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
11/05/2024
MGI 6.24
The Jackson Laboratory