Phenotypes Associated with This Genotype

Genotype
MGI:8221706

• Allelic Composition: Rho^{tm6.1(RHO*/TagRFP-T)Jhw}/Rho⁺
• Genetic Background: B6.129S7-Rho^{tm6.1(RHO*/TagRFP-T)Jhw}

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

vision/eye

increased retina apoptosis ( J:346249 )

• cell death in retina is comparable to wild-type at P14 but is increased by P30, however by P90, it is no longer significantly different from that in wild-type mice

abnormal photoreceptor inner segment morphology ( J:346249 )

• mice exhibit massive alterations in inner segment (IS) membrane structure

• rod photoreceptor neurons have distended ISs filled with ectopic membranes that are expanded endoplasmic reticulum (ER) membranes which contain mislocalized mutant protein

• at P30, rods show accumulated IS membranes but are more dysmorphic than at P14, with examples of the membranes wrapping around themselves in whorls

abnormal photoreceptor outer segment disc membrane morphology ( J:346249 )

• at P30, defects in the outer segment (OS) membrane morphology at the base of the OS are seen in some rods, including vesicular and misshapen discs, and an unbound, splayed OS axoneme

• however, morphologies of the basal body, connecting cilium, and OS discs are normal at P14 and basal body and connecting cilium are normal at P30

retina rod cell degeneration ( J:346249 )

retina outer nuclear layer degeneration ( J:346249 )

• outer nuclear layer (ONL) thickness is normal at P14 and shows a slow decline in width with a final value of 23 um with a time constant of 56 days

• the ONL thickness is reduced in the interior retina at P60 and P90, however thickness across all regions of the retina is not different

• the P90 ONL thickness is significantly reduced and by P364, ONL thickness is severely reduced to 40% of that in wild-type retinas

retina degeneration ( J:346249 )

• mice exhibit a slow and partial retinal degeneration

abnormal ERG implicit time ( J:346249 )

• implicit times from scotopic ERG recordings (times from the a-wave deflection to peak b-wave) are higher at moderate flash intensities, but there is no significant difference over the entire flash range at P30

decreased a-wave amplitude ( J:346249 )

• in dark-adapted conditions, the scotopic a-wave amplitudes are reduced at P30, however the a-waves stabilize over time and are not further diminished at P90

• however, scotopic b-waves are not reduced at P30 or P90

abnormal rod electrophysiology ( J:346249 )

• electroretinogram (ERG) rod photoreceptor function is moderately diminished

nervous system

abnormal photoreceptor inner segment morphology ( J:346249 )

• mice exhibit massive alterations in inner segment (IS) membrane structure

• rod photoreceptor neurons have distended ISs filled with ectopic membranes that are expanded endoplasmic reticulum (ER) membranes which contain mislocalized mutant protein

• at P30, rods show accumulated IS membranes but are more dysmorphic than at P14, with examples of the membranes wrapping around themselves in whorls

abnormal photoreceptor outer segment disc membrane morphology ( J:346249 )

• at P30, defects in the outer segment (OS) membrane morphology at the base of the OS are seen in some rods, including vesicular and misshapen discs, and an unbound, splayed OS axoneme

• however, morphologies of the basal body, connecting cilium, and OS discs are normal at P14 and basal body and connecting cilium are normal at P30

retina rod cell degeneration ( J:346249 )

cellular

increased retina apoptosis ( J:346249 )

• cell death in retina is comparable to wild-type at P14 but is increased by P30, however by P90, it is no longer significantly different from that in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:346249