Phenotypes Associated with This Genotype

Genotype
MGI:4367272

• Allelic Composition: Rho^R3/Rho^R3
• Genetic Background: C57BL/6J-Rho^R3

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

vision/eye

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

increased retina apoptosis ( J:153281 )

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the outer nuclear layer (ONL) of homozygous mutant retinas

absent photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) shows that no outer segments or discs are present at P7, the youngest age sampled

abnormal retina cone cell morphology ( J:153281 )

• cone opsins, as well as rhodopsin, mislocalize in the retinas of homozygous mutant mice

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

abnormal retina inner nuclear layer morphology ( J:153281 )

• immunohistochemical analysis at P14 reveals the mutant rhodopsin protein accumulating in the photoreceptor inner segments and/or cell bodies instead of trafficking to the photoreceptor outer segments

retina outer nuclear layer degeneration ( J:153281 )

• by P18 the ONL is reduced to a single row of photoreceptors consisting only of cone cells

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the ONL of homozygous mutant retinas

retina degeneration ( J:153281 )

• severe and rapidly progressive

abnormal eye electrophysiology ( J:153281 )

• whole field scotopic electroretinography at P21 demonstrates severely reduced rod photoreceptor cell function; neither a- nor b-waves are detectable

nervous system

absent photoreceptor outer segment ( J:153281 )

• examination of the retinal ultrastructure by transmission electron microscopy (TEM) shows that no outer segments or discs are present at P7, the youngest age sampled

abnormal retina cone cell morphology ( J:153281 )

• cone opsins, as well as rhodopsin, mislocalize in the retinas of homozygous mutant mice

cardiovascular system

abnormal retina vasculature morphology ( J:153281 )

• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21

pigmentation

abnormal retina pigmentation ( J:153281 )

• unevenly distributed pigment patches are observed in photographs of the fundus at P21

cellular

increased retina apoptosis ( J:153281 )

• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the outer nuclear layer (ONL) of homozygous mutant retinas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 4		DOID:0110372	OMIM:613731	J:153281