Phenotypes Associated with This Genotype

Genotype
MGI:5440289

• Allelic Composition: Tg(RHO-P23H)DTpd/?
• Genetic Background: involves: C57BL/6 * DBA/2

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

vision/eye

abnormal retina blood vessel pattern ( J:76722 )

• attenuation of retinal blood vessels

• similar to human eyes with retinitis pigmentosa

photoreceptor outer segment degeneration ( J:76722 )

• moderate thinning at 10 days of age

• marked photoreceptor degeneration by 20 days of age

• outer nuclear layer reduced to a single layer of sparse photoreceptor nuclei

• inner layers normal

abnormal retina pigmentation ( J:76722 )

• flat hyper- and hypo-pigmented areas unlike dendritic clumps found in human disease

• retinal pigment epithelial cells variable in height and melanin content

abnormal eye electrophysiology ( J:76722 )

• reduced a and b wave amplitudes in electroretinograms

• delayed b wave response times

cardiovascular system

abnormal retina blood vessel pattern ( J:76722 )

• attenuation of retinal blood vessels

• similar to human eyes with retinitis pigmentosa

pigmentation

abnormal retina pigmentation ( J:76722 )

• flat hyper- and hypo-pigmented areas unlike dendritic clumps found in human disease

• retinal pigment epithelial cells variable in height and melanin content

nervous system

photoreceptor outer segment degeneration ( J:76722 )

• moderate thinning at 10 days of age

• marked photoreceptor degeneration by 20 days of age

• outer nuclear layer reduced to a single layer of sparse photoreceptor nuclei

• inner layers normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:76722