About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pde6batrd1
atypical retinal degeneration 1
MGI:2178311
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pde6batrd1/Pde6batrd1 involves: BALB/cAnN * C3H/HeN MGI:3028000
ht2
Pde6batrd1/Pde6btm1Eye involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J MGI:5544447
ht3
Pde6batrd1/Pde6brd1 involves: BALB/cAnN * C3H/HeN MGI:3027999
cn4
Pde6batrd1/Pde6btm1Eye
Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J MGI:5544446


Genotype
MGI:3028000
hm1
Allelic
Composition
Pde6batrd1/Pde6batrd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6batrd1 mutation (2 available); any Pde6b mutation (173 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• pale by 10 weeks of age
• slightly thinner at 3.5 weeks of age followed by rapid progressive thinning over the next 3 weeks
• at 6 weeks of age, 3-4 cell layers are present in the peripheral retina
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice (J:75964)
• develops as mice age, onset is later than in Pde6b rd1 (J:101336)
• at 3.5 weeks of age, at least 20% of mice respond to a 2 degree grating and 90% respond to a 4 degree grating in a visual tracking drum assay
• at 6 weeks of age mice respond well to a 4 or 8 degree grating in a visual tracking drum assay
• by 10 weeks of age mice fail to respond in a visual tracking drum assay
• effectively blind by 10 weeks of age

nervous system
• pale by 10 weeks of age




Genotype
MGI:5544447
ht2
Allelic
Composition
Pde6batrd1/Pde6btm1Eye
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:
Pde6batrd1 mutation (2 available); any Pde6b mutation (173 available)
Pde6btm1Eye mutation (0 available); any Pde6b mutation (173 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 9 weeks of age small hyper-autofluorescence spots are distributed uniformly over the fundus
• at 18 weeks of age hyper-autofluorescence spots form larger patches of heterogenous size
• progressive arteriolar narrowing is seen between 9 and 18 weeks of age
• progressive reduction in the number of photoreceptors in the outer nuclear layer from 2 to 18 weeks of age
• slow progressive photoreceptor degeneration
• mixed rod-cone responses are lower and progressively decrease over time
• decreases in photopic cone responses are slower than those in rod or mixed rod-cone responses
• decreases are seen after 15 weeks of age
• rod-specific b-wave peaks are depressed or extinguished in mice between 6 and 18 weeks of age

nervous system
• progressive reduction in the number of photoreceptors in the outer nuclear layer from 2 to 18 weeks of age
• slow progressive photoreceptor degeneration

cardiovascular system
• progressive arteriolar narrowing is seen between 9 and 18 weeks of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinitis Pigmentosa 40; RP40 613801 J:200898




Genotype
MGI:3027999
ht3
Allelic
Composition
Pde6batrd1/Pde6brd1
Genetic
Background
involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6batrd1 mutation (2 available); any Pde6b mutation (173 available)
Pde6brd1 mutation (132 available); any Pde6b mutation (173 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• patches of pigmented cells are seen at 3.5 weeks of age
• slow onset of degeneration; the visual tracking response persists until several weeks of age in contrast to Pde6brd1 homozygous mice (J:75964)
• at 3.5 weeks of age, no mice respond to a 2 degree grating in a visual tracking drum assay




Genotype
MGI:5544446
cn4
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 (1 available); any Gt(ROSA)26Sor mutation (315 available)
Pde6batrd1 mutation (2 available); any Pde6b mutation (173 available)
Pde6btm1Eye mutation (0 available); any Pde6b mutation (173 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
OMIM ID Ref(s)
Retinitis Pigmentosa 40; RP40 613801 J:200898





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/22/2016
MGI 6.04
The Jackson Laboratory