Phenotypes Associated with This Genotype

Genotype
MGI:3611315

• Allelic Composition: Pde6a^nmf282/Pde6a^nmf282
• Genetic Background: A.B6 Tyr⁺-Pde6a^nmf282/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal ocular fundus morphology ( J:142108 )

• mice exhibit grainy fundus unlike in wild-type mice

decreased retina photoreceptor cell number ( J:142108 )

• by P21, nearly all photoreceptors are gone

short photoreceptor inner segment ( J:142108 )

• at P14, the inner segment is reduced to 50% of wild-type

absent photoreceptor outer segment ( J:142108 )

• at P14

short photoreceptor outer segment ( J:142108 )

• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice

retina photoreceptor degeneration ( J:142108 )

• at P12, photoreceptor degeneration is observed

• dark-rearing does not slows the progression of photoreceptor degeneration

thin retina outer nuclear layer ( J:142108 )

• 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

retina degeneration ( J:87349 )

• standard pathology examination of two mutant mice (aged 214 and 443 days) revealed severe retinal degeneration

retina spots ( J:87349 )

• routine ophthalmoscopic examination of 12 week old homozygous mice revealed retinal spots

abnormal electroretinogram waveform feature ( J:142108 )

• by P14, electroretinogram activity is absent

nervous system

brain vacuoles ( J:87349 )

• standard pathology examination of a 443 day old mutant mouse revealed vacuolation of the brain

decreased retina photoreceptor cell number ( J:142108 )

• by P21, nearly all photoreceptors are gone

short photoreceptor inner segment ( J:142108 )

• at P14, the inner segment is reduced to 50% of wild-type

absent photoreceptor outer segment ( J:142108 )

• at P14

short photoreceptor outer segment ( J:142108 )

• at P12, the outer segment is reduced in thickness by 50% compared to in wild-type mice

retina photoreceptor degeneration ( J:142108 )

• at P12, photoreceptor degeneration is observed

• dark-rearing does not slows the progression of photoreceptor degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:142108