Phenotypes Associated with This Genotype

Genotype
MGI:8221711

• 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