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Phenotypes Associated with This Genotype
Genotype
MGI:5806540
Allelic
Composition
Nrltm1Asw/Nrltm1Asw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nrltm1Asw mutation (1 available); any Nrl mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• visually guided behavior testing (optokinetic reflex) shows decreased cone-mediated spatial frequency thresholds with mice losing the ability to track at 6 months of age

vision/eye
• abnormal retinal lamination is seen at 4 weeks of age
• abnormal intraretinal hyperreflective lesions
• retina shows aberrant photoreceptor packing, with aberrant clustering of photoreceptors with empty patches where nuclear rosettes form, and abnormal association with the retinal pigment epithelium
• abnormal buildup of material in photoreceptors is seen at the photoreceptor-retinal pigment epithelium interface
• photoreceptors are not tightly packed at the retinal pigment epithelium interface
• outer segment of photoreceptors appears bulbous and outer segment tips are enlarged due to an internal buildup of vacuole-like structures
• photoreceptors show an outer segment disc arrangement different from rods, with some discs showing interconnections to each other and the surrounding plasma membrane
• excessive S-cone photoreceptors exhibit abnormal accumulations of materials
• excessive S-cone photoreceptor population
• photoreceptor degeneration is seen by 8 weeks of age
• 6 month old mice have fewer cones in the inferior versus superior retinas
• severely reduced retinal pigment epithelium interface phagocytosis of outer segment, with lack of phagosomes in the retinal pigment epithelium
• severely reduced retinal pigment epithelium interface phagocytosis of outer segment
• M-cone responses are decreased in 2 and 6 month old mice

pigmentation
• severely reduced retinal pigment epithelium interface phagocytosis of outer segment, with lack of phagosomes in the retinal pigment epithelium

nervous system
• retina shows aberrant photoreceptor packing, with aberrant clustering of photoreceptors with empty patches where nuclear rosettes form, and abnormal association with the retinal pigment epithelium
• abnormal buildup of material in photoreceptors is seen at the photoreceptor-retinal pigment epithelium interface
• photoreceptors are not tightly packed at the retinal pigment epithelium interface
• outer segment of photoreceptors appears bulbous and outer segment tips are enlarged due to an internal buildup of vacuole-like structures
• photoreceptors show an outer segment disc arrangement different from rods, with some discs showing interconnections to each other and the surrounding plasma membrane
• excessive S-cone photoreceptors exhibit abnormal accumulations of materials
• excessive S-cone photoreceptor population
• photoreceptor degeneration is seen by 8 weeks of age
• 6 month old mice have fewer cones in the inferior versus superior retinas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
enhanced S-cone syndrome DOID:0090059 OMIM:268100
J:175566


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
01/21/2020
MGI 6.14
The Jackson Laboratory