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Phenotypes Associated with This Genotype
Genotype
MGI:3611315
Allelic
Composition
Pde6anmf282/Pde6anmf282
Genetic
Background
A.B6 Tyr+-Pde6anmf282/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pde6anmf282 mutation (1 available); any Pde6a mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit grainy fundus unlike in wild-type mice
• by P21, nearly all photoreceptors are gone
• at P14, the inner segment is reduced to 50% of wild-type
• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice
• at P12, photoreceptor degeneration is observed
• dark-rearing does not slows the progression of photoreceptor degeneration
• at P12, the outer nuclear layer is reduced 20% compared to in wild-type mice
• at P14, the outer nuclear layer is reduced 50% compared to in wild-type mice
• standard pathology examination of two mutant mice (aged 214 and 443 days) revealed severe retinal degeneration
• routine ophthalmoscopic examination of 12 week old homozygous mice revealed retinal spots
• by P14, electroretinogram activity is absent

nervous system
• standard pathology examination of a 443 day old mutant mouse revealed vacuolation of the brain
• by P21, nearly all photoreceptors are gone
• at P14, the inner segment is reduced to 50% of wild-type
• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice
• at P12, photoreceptor degeneration is observed
• dark-rearing does not slows the progression of photoreceptor degeneration

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinitis Pigmentosa; RP 268000 J:142108


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory