Phenotypes associated with this allele

• Allele Symbol: Rho^Tvrm4
• Allele Name: translational research vision model 4
• Allele ID: MGI:3845397
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rho^Tvrm4/Rho^+	B6.Cg-Rho^Tvrm4/Pjn	MGI:4455025
cx2	Rho^Tvrm4/Rho^+ Rpe65^rd12/Rpe65^rd12	B6.Cg-Rpe65^rd12 Rho^Tvrm4	MGI:4455027

Genotype
MGI:4455025

ht1

• Allelic Composition: Rho^Tvrm4/Rho⁺
• Genetic Background: B6.Cg-Rho^Tvrm4/Pjn

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

Light-induced degeneration of photoreceptors in Rho^Tvrm4/Rho⁺ mice

homeostasis/metabolism

abnormal retinol level ( J:159523 )

• extracts of whole eyes collected immediately after exposure to 12,000 lux for 5 mins contain significantly lower levels of all trans-retinol than in wild-type

• however, no difference is detected at 1 h after light exposure

photosensitivity ( J:159523 )

• exposure to 12,000 lux of light for 5 min leads to visible bleaching of the entire retina for 1 h following exposure, in contrast wild-type retinas are unaffected

• exposure to 12,000 lux for 2 or more minutes induces photoreceptor degeneration

vision/eye

increased retina apoptosis ( J:159523 )

• TUNEL+ photoreceptors

photosensitivity ( J:159523 )

• exposure to 12,000 lux of light for 5 min leads to visible bleaching of the entire retina for 1 h following exposure, in contrast wild-type retinas are unaffected

• exposure to 12,000 lux for 2 or more minutes induces photoreceptor degeneration

disorganized photoreceptor inner segment ( J:159523 )

• the border between the outer and inner segments of the retina, and both compartments are highly disorganized 24 h after exposure to 12,000 lux of bright light

abnormal photoreceptor outer segment morphology ( J:159523 )

• slightly shorter at 1 year of age

• 1 h after exposure to 12,000 lux of bright light, appear disorganized and some areas are devoid of outer segments, whereas others appear to contain outer segment aggregates

disorganized photoreceptor outer segment ( J:159523 )

• the border between the outer and inner segments of the retina, and both compartments are highly disorganized 24 h after exposure to 12,000 lux of bright light

retina photoreceptor degeneration ( J:159523 )

• bright light-induced degeneration of photoreceptors

• exposure to 12,000 lux for 2 or more minutes induces photoreceptor degeneration

• however, under standard housing conditions no degeneration is detected

abnormal retina pigment epithelium morphology ( J:159523 )

• after exposure to 12,000 lux of bright light, apical processes of retinal pigment epithelium that normally ensheath the outer segments appear to extend further along the outer segments than in wild-type

disorganized retina outer nuclear layer ( J:159523 )

• 24 h after exposure to 12,000 lux of bright light the outer nuclear layer appears disorganized, although cell loss is not apparent

retina outer nuclear layer degeneration ( J:159523 )

• two or fewer layers of photoreceptor nuclei remaining at 1 week following light exposure

delayed dark adaptation ( J:159523 )

• mice recover with a time constant of 9.5 min and reach an asymptote that is only 60% of the dark adapted value

nervous system

disorganized photoreceptor inner segment ( J:159523 )

• the border between the outer and inner segments of the retina, and both compartments are highly disorganized 24 h after exposure to 12,000 lux of bright light

abnormal photoreceptor outer segment morphology ( J:159523 )

• slightly shorter at 1 year of age

• 1 h after exposure to 12,000 lux of bright light, appear disorganized and some areas are devoid of outer segments, whereas others appear to contain outer segment aggregates

disorganized photoreceptor outer segment ( J:159523 )

• the border between the outer and inner segments of the retina, and both compartments are highly disorganized 24 h after exposure to 12,000 lux of bright light

retina photoreceptor degeneration ( J:159523 )

• bright light-induced degeneration of photoreceptors

• exposure to 12,000 lux for 2 or more minutes induces photoreceptor degeneration

• however, under standard housing conditions no degeneration is detected

pigmentation

abnormal retina pigment epithelium morphology ( J:159523 )

• after exposure to 12,000 lux of bright light, apical processes of retinal pigment epithelium that normally ensheath the outer segments appear to extend further along the outer segments than in wild-type

cellular

increased retina apoptosis ( J:159523 )

• TUNEL+ photoreceptors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:159523

Genotype
MGI:4455027

cx2

• Allelic Composition: Rho^Tvrm4/Rho⁺; Rpe65^rd12/Rpe65^rd12
• Genetic Background: B6.Cg-Rpe65^rd12 Rho^Tvrm4

Photoreceptor degeneration without exposure to bright light in Rpe65^rd12/Rpe65^rd12 Rho^Tvrm4/Rho⁺ mice

vision/eye

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

retina outer nuclear layer degeneration ( J:159523 )

• at 4 weeks of age, retinas have only 2-3 rows of cell bodies remaining in the central outer nuclear layer

nervous system

retina photoreceptor degeneration ( J:159523 )

• photoreceptor degeneration without exposure to bright light

• the peripheral retina also shows cell loss but is better preserved than the central retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:159523