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Phenotypes Associated with This Genotype
Genotype
MGI:3722928
Allelic
Composition
Rbl1tm1Htr/Rbl1tm1Htr
Tg(Pax6-cre,GFP)2Pgr/?
Genetic
Background
involves: 129 * C57BL/6 * FVB/N * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbl1tm1Htr mutation (0 available); any Rbl1 mutation (60 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the optic nerve is thin due to the loss of retinal ganglion cells
• retinal transition (RTC) undergo ectopic DNA synthesis and increased apoptosis
• at P8 or P18 when cell division is completed in the wild-type retina, ectopic RTC divisions are detected
• Slc18a3 staining of mature starburst amacrine cells (SACs) is absent from the peripheral retina
• apoptosis eliminates most retinal ganglion cells
• apoptosis eliminates many rod cells
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• however, SAC survival and process outgrowth is normal
• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective
• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice
• apoptosis eliminates most bipolar cells
• after P8, mice exhibit a reduction in Callb2+ starburst amacrine ccell bodies, indicative of amacrine cells
• only 1 Calb2+ starburst amacrine cell track is detectable instead of 3 normally detected in the inner plexiform layer
• the outer nuclear layer is thin due to the loss of rods
• light-adapted (photopic) response is defective
• the response to dim light in dark-adapted (scotopic) conditions is defective

nervous system
• apoptosis eliminates most retinal ganglion cells
• apoptosis eliminates many rod cells
• starburst amacrine cells (SACs) have defects in differentiation not associated with cell cycle or apoptosis
• only 1 Calb2+ SAC track is detectable instead of 3 normally detected in the inner plexiform layer
• Slc18a3 staining of mature SACs is absent from the peripheral retina
• however, SAC survival and process outgrowth is normal
• as markers of differentiation are detected early in the cell body if at all, synthesis or stability and transport of SAC markers is defective
• 5.6% of Camk2+ SAC express Chat and Slc18a3 compared to 60% in wild-type mice, 3.7% in Rbl1/E2f1 null mice and 91% in Rbl1/E2f3 null mice
• apoptosis eliminates most bipolar cells
• the optic nerve is thin due to the loss of retinal ganglion cells


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
12/10/2024
MGI 6.24
The Jackson Laboratory