Phenotypes associated with this allele

• Allele Symbol: Rho^{tm6.1(RHO*/TagRFP-T)Jhw}
• Allele Name: targeted mutation 6.1, John H Wilson
• Allele ID: MGI:8221592
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rho^tm6.1(RHO*/TagRFP-T)Jhw/Rho^tm6.1(RHO*/TagRFP-T)Jhw	B6.129S7-Rho^tm6.1(RHO*/TagRFP-T)Jhw	MGI:8221711
ht2	Rho^tm6.1(RHO*/TagRFP-T)Jhw/Rho^+	B6.129S7-Rho^tm6.1(RHO*/TagRFP-T)Jhw	MGI:8221706

Genotype
MGI:8221711

hm1

• Allelic Composition: Rho^{tm6.1(RHO*/TagRFP-T)Jhw}/Rho^{tm6.1(RHO*/TagRFP-T)Jhw}
• 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 increased compared to wild-type retina at P14

retina cone cell degeneration ( J:346249 )

• while cones are still seen in the retina at P30, by P90, no visible cones are remaining

retina rod cell degeneration ( J:346249 )

• nearly complete loss of rods

retina outer nuclear layer degeneration ( J:346249 )

• ONL thickness is normal at P14 and shows a rapid decline in ONL width, with a time constant of 12 days and by P90, the ONL is reduced to a single, disorganized layer of nuclei

retina degeneration ( J:346249 )

• retinal degeneration is much more severe than in heterozygotes, such that by P90, nearly all photoreceptor neurons are lost in the retinas

abnormal electroretinogram waveform feature ( J:346249 )

• mice have essentially no scotopic ERG response, but show a minor b-wave response at high flash intensities, attributed to cones

decreased a-wave amplitude ( J:346249 )

• scotopic a-wave amplitude is completely absent at P30

decreased b-wave amplitude ( J:346249 )

• scotopic b-wave amplitude is absent except for a minor b-wave response at high flash intensities which is attributed to cones

abnormal rod electrophysiology ( J:346249 )

• mice have essentially no scotopic ERG response

• while photopic b-wave amplitudes appear slightly lower in amplitude, they are not significantly reduced

nervous system

retina cone cell degeneration ( J:346249 )

• while cones are still seen in the retina at P30, by P90, no visible cones are remaining

retina rod cell degeneration ( J:346249 )

• nearly complete loss of rods

cellular

increased retina apoptosis ( J:346249 )

• cell death in retina is increased compared to wild-type retina at P14

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

Genotype
MGI:8221706

ht2

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

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