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Phenotypes Associated with This Genotype
Genotype
MGI:5544446
Allelic
Composition
Pde6batrd1/Pde6btm1Eye
Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(cre/ERT2)Tyj mutation (3 available); any Gt(ROSA)26Sor mutation (993 available)
Pde6batrd1 mutation (2 available); any Pde6b mutation (122 available)
Pde6btm1Eye mutation (0 available); any Pde6b mutation (122 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• treatment with tamoxifen at E0.5 or E12 prevents the progressive photoreceptor degeneration seen in heterozygous mice without cre expression
• treatment with tamoxifen at E0.5 also rescues the hyper-autofluorescence fundus phenotype
• following tamoxifen treatment at E12 or P1and P2, at 18 weeks of age hyper-autofluorescence spots of heterogeneous size and non-uniform distribution are seen on the fundus
• tamoxifen treatment at P1 fails to rescue the fundus hyper-autofluorescence phenotype
• tamoxifen treatment at E12 or P1 and P2 results in partial rescue of progressive arteriolar narrowing at 18 weeks of age
• tamoxifen treatment at E0.5 results in complete rescue of arteriolar narrowing at 18 weeks of age
• tamoxifen treatment at P1 fails to rescue arteriolar narrowing
• only treatment with tamoxifen at E0.5 resulted in photoreceptor numbers similar to controls after P18
• mice treated with tamoxifen at E12 or P1 have fewer photoreceptors by 18 weeks of age compared to controls
• cones show a distinct trailing edge/ring-shaped shape, reminiscent of a flame instead of the normal small, round, punctate shape at E12
• treatment with a single dose of tamoxifen at P1 fails to prevent progressive retinal photoreceptor degeneration
• treatment with 2 doses of tamoxifen at P1 and P2 partially rescues the progressive retinal photoreceptor degeneration

nervous system
• only treatment with tamoxifen at E0.5 resulted in photoreceptor numbers similar to controls after P18
• mice treated with tamoxifen at E12 or P1 have fewer photoreceptors by 18 weeks of age compared to controls
• cones show a distinct trailing edge/ring-shaped shape, reminiscent of a flame instead of the normal small, round, punctate shape at E12
• treatment with a single dose of tamoxifen at P1 fails to prevent progressive retinal photoreceptor degeneration
• treatment with 2 doses of tamoxifen at P1 and P2 partially rescues the progressive retinal photoreceptor degeneration

cardiovascular system
• tamoxifen treatment at E12 or P1 and P2 results in partial rescue of progressive arteriolar narrowing at 18 weeks of age
• tamoxifen treatment at E0.5 results in complete rescue of arteriolar narrowing at 18 weeks of age
• tamoxifen treatment at P1 fails to rescue arteriolar narrowing

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 40 DOID:0110375 OMIM:613801
J:200898


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