Phenotypes Associated with This Genotype

Genotype
MGI:3828991

• Allelic Composition: Pde6a^nmf363/Pde6a^nmf363
• Genetic Background: C57BL/6J-Pde6a^nmf363/J

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

vision/eye

retina photoreceptor degeneration ( J:142108 )

• degradation of the outer segment is observed at P19

• however, dark-rearing mice on a pure C57BL/6J background slows the progression of photoreceptor degeneration

thin retina outer nuclear layer ( J:142108 )

• at P14, the outer nuclear layer is reduced in thickness by 30% compared to in wild-type mice

• Background Sensitivity: at P19, dark-reared mice on a C57BL/6J background exhibit reduced outer nuclear layer thickness compared to in wild-type mice that is not as severe as in homozygotes raised in standard lighting conditions

• at P30, a single layer of cell bodies remains in the outer nuclear layer

• however, dark-reared mice on a pure C57BL/6J background exhibit normal retinal outer nuclear layer thickness at P14

abnormal eye electrophysiology ( J:142108 )

• some residual activity is measured at P21

• Background Sensitivity: when mice are on a pure C57BL/6J background, a and b waves in dark-reared homozygotes are larger than mice reared under standard light conditions but smaller than in wild-type mice

nervous system

retina photoreceptor degeneration ( J:142108 )

• degradation of the outer segment is observed at P19

• however, dark-rearing mice on a pure C57BL/6J background 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