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Phenotypes Associated with This Genotype
Genotype
MGI:6360455
Allelic
Composition
Rab28tm1d(EUCOMM)Wtsi/Rab28tm1d(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6 * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab28tm1d(EUCOMM)Wtsi mutation (0 available); any Rab28 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• progressive retinal outer segment shortening, with outer segment lengths reduced to 69, 65, and 50% at 3, 6, and 13 months, respectively
• visual pigments ML-opsin and S-opsin are mislocalized in part to the inner segment, outer nuclear layer, and outer plexiform layer of cones
• the number of cone outer segment phagosomes is reduced in the retina, with a 5-fold reduction in phagosome counts
• however, rod phagosome density is similar to that in wild-type mice
• 1 month old retinas show elongated cones with disorganized distal membranes
• cones have elongated outer segment, stretching toward the apical retinal pigment epithelium (RPE) edge, and enlarged outer segment tips
• slight elongation of cone outer segment and occasional outer segment tip enlargement are first seen shortly after eye opening around P12
• cone outer segments are on average 43% longer at 1 month of age
• at the RPE/photoreceptor interface, RPE microvilli-wrapped structures filled with distorted membrane stacks or vacuolar membranes are seen; these structures appear in different shapes indicating buildup of materials at the outer segment tip
• cone outer segment distal tips are filled with vacuoles and/or distorted membranes
• cone number is slightly reduced at 1 month but severely reduced at 3 months, and very few cones at 13 months indicating fast degeneration of cones
• cone densities are reduced to 88, 71, 35, and 12% of controls at 1, 3, 6, and 13 months, respectively
• increase in retinal pigment epithelium pigment deposits
• mild reduction of the outer nuclear layer (ONL) thickness
• ONL thickness in the central retina is reduced to 87, 78, and 73% of controls by 3, 6, and 13 months of age, respectively
• progressive retina degeneration, with a gradual reduction of retinal outer segment length and outer nuclear layer thickness and a more rapid cone degeneration
• scotopic a-wave amplitudes are reduced to about 70% of control at 3 months
• scotopic a-wave amplitude declines slowly starting at 1 month and is 42% of wild-type levels by 13 months
• photopic b-wave amplitudes are reduced to less than 50% of control at 3 months
• photopic ERGs decline faster, being 65% of control at 1 month and undetectable at 13 months

nervous system
• progressive retinal outer segment shortening, with outer segment lengths reduced to 69, 65, and 50% at 3, 6, and 13 months, respectively
• visual pigments ML-opsin and S-opsin are mislocalized in part to the inner segment, outer nuclear layer, and outer plexiform layer of cones
• the number of cone outer segment phagosomes is reduced in the retina, with a 5-fold reduction in phagosome counts
• however, rod phagosome density is similar to that in wild-type mice
• 1 month old retinas show elongated cones with disorganized distal membranes
• cones have elongated outer segment, stretching toward the apical retinal pigment epithelium (RPE) edge, and enlarged outer segment tips
• slight elongation of cone outer segment and occasional outer segment tip enlargement are first seen shortly after eye opening around P12
• cone outer segments are on average 43% longer at 1 month of age
• at the RPE/photoreceptor interface, RPE microvilli-wrapped structures filled with distorted membrane stacks or vacuolar membranes are seen; these structures appear in different shapes indicating buildup of materials at the outer segment tip
• cone outer segment distal tips are filled with vacuoles and/or distorted membranes
• cone number is slightly reduced at 1 month but severely reduced at 3 months, and very few cones at 13 months indicating fast degeneration of cones
• cone densities are reduced to 88, 71, 35, and 12% of controls at 1, 3, 6, and 13 months, respectively

pigmentation
• increase in retinal pigment epithelium pigment deposits

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cone-rod dystrophy 18 DOID:0111024 OMIM:615374
J:267522


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
02/23/2021
MGI 6.16
The Jackson Laboratory