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Phenotypes Associated with This Genotype
Genotype
MGI:4367272
Allelic
Composition
RhoR3/RhoR3
Genetic
Background
C57BL/6J-RhoR3
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
RhoR3 mutation (0 available); any Rho mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21
• apoptotic cells, identified by their darkly staining and condensed nuclei, are prevalent in the outer nuclear layer (ONL) of homozygous mutant retinas
• 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
• cone opsins, as well as rhodopsin, mislocalize in the retinas of homozygous mutant mice
• unevenly distributed pigment patches are observed in photographs of the fundus at P21
• 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
• 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
• severe and rapidly progressive
• whole field scotopic electroretinography at P21 demonstrates severely reduced rod photoreceptor cell function; neither a- nor b-waves are detectable

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

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

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

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory