Phenotypes Associated with This Genotype

Genotype
MGI:5924952

• Allelic Composition: Rho^Tvrm334/Rho⁺
• Genetic Background: B6.Cg-Rho^Tvrm334/Pjn

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

pigmentation

abnormal retina pigment epithelium morphology ( J:243745 )

• the fundus appears grainy, and there is rapid photoreceptor degeneration and thinning of the retinal pigment epithelium, with a slightly thinned outer nuclear layer at 14 days of age and only 3 to 4 rows of photoreceptor nuclei at 21 days of age

• rhodopsin is mislocalized to the soma of photoreceptor cells

nervous system

retina photoreceptor degeneration ( J:243745 )

vision/eye

retina photoreceptor degeneration ( J:243745 )

abnormal retina pigment epithelium morphology ( J:243745 )

• the fundus appears grainy, and there is rapid photoreceptor degeneration and thinning of the retinal pigment epithelium, with a slightly thinned outer nuclear layer at 14 days of age and only 3 to 4 rows of photoreceptor nuclei at 21 days of age

• rhodopsin is mislocalized to the soma of photoreceptor cells

decreased total retina thickness ( J:243745 )

abnormal rod electrophysiology ( J:243745 )

• although light adapted (cone) ERG readings are normal at 21 days of age, dark-adapted ERG shows severely diminished rod function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:243745