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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pde6btm1Eye
targeted mutation 1, Stephen H Tsang
MGI:5544444
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Pde6batrd1/Pde6btm1Eye involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J MGI:5544447
cn2
 		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:5544447
ht1
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 (122 available)
Pde6btm1Eye mutation (0 available); any Pde6b mutation (122 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal ocular fundus morphology ( J:200898 )
• 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
abnormal retina blood vessel morphology ( J:200898 )
• progressive arteriolar narrowing is seen between 9 and 18 weeks of age
decreased retina photoreceptor cell number ( J:200898 )
• progressive reduction in the number of photoreceptors in the outer nuclear layer from 2 to 18 weeks of age
retina photoreceptor degeneration ( J:200898 )
• slow progressive photoreceptor degeneration
abnormal eye electrophysiology ( J:200898 )
• mixed rod-cone responses are lower and progressively decrease over time
abnormal cone electrophysiology ( J:200898 )
• decreases in photopic cone responses are slower than those in rod or mixed rod-cone responses
• decreases are seen after 15 weeks of age
abnormal rod electrophysiology ( J:200898 )
• rod-specific b-wave peaks are depressed or extinguished in mice between 6 and 18 weeks of age

nervous system
decreased retina photoreceptor cell number ( J:200898 )
• progressive reduction in the number of photoreceptors in the outer nuclear layer from 2 to 18 weeks of age
retina photoreceptor degeneration ( J:200898 )
• slow progressive photoreceptor degeneration

cardiovascular system
abnormal retina blood vessel morphology ( J:200898 )
• progressive arteriolar narrowing is seen between 9 and 18 weeks of age

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




Genotype
MGI:5544446
cn2
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
vision/eye phenotype ( J:200898 )
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
abnormal ocular fundus morphology ( J:200898 )
• 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
abnormal retina blood vessel morphology ( J:200898 )
• 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
decreased retina photoreceptor cell number ( J:200898 )
• 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
abnormal retina cone cell morphology ( J:200898 )
• cones show a distinct trailing edge/ring-shaped shape, reminiscent of a flame instead of the normal small, round, punctate shape at E12
retina photoreceptor degeneration ( J:200898 )
• 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
decreased retina photoreceptor cell number ( J:200898 )
• 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
abnormal retina cone cell morphology ( J:200898 )
• cones show a distinct trailing edge/ring-shaped shape, reminiscent of a flame instead of the normal small, round, punctate shape at E12
retina photoreceptor degeneration ( J:200898 )
• 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
abnormal retina blood vessel morphology ( J:200898 )
• 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




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory