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Phenotypes Associated with This Genotype
Genotype
MGI:5544447
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 (118 available)
Pde6btm1Eye mutation (0 available); any Pde6b mutation (118 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
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
03/24/2020
MGI 6.15
The Jackson Laboratory