Phenotypes Associated with This Genotype

Genotype
MGI:5806540

• Allelic Composition: Nrl^tm1Asw/Nrl^tm1Asw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

behavior/neurological

abnormal optokinetic reflex ( J:241970 )

• 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 retina morphology ( J:175566 )

• abnormal retinal lamination is seen at 4 weeks of age

• abnormal intraretinal hyperreflective lesions

abnormal retina photoreceptor morphology ( J:175566 )

• 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

abnormal photoreceptor outer segment morphology ( J:175566 )

• 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

abnormal retina cone cell morphology ( J:175566 )

• excessive S-cone photoreceptors exhibit abnormal accumulations of materials

increased retina cone cell number ( J:175566 )

• excessive S-cone photoreceptor population

retina photoreceptor degeneration ( J:175566 )

• photoreceptor degeneration is seen by 8 weeks of age

retina cone cell degeneration ( J:241970 )

• 6 month old mice have fewer cones in the inferior versus superior retinas

abnormal retina pigment epithelium morphology ( J:175566 )

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

abnormal eye physiology ( J:175566 )

• severely reduced retinal pigment epithelium interface phagocytosis of outer segment

abnormal electroretinogram waveform feature ( J:241970 )

• M-cone responses are decreased in 2 and 6 month old mice

pigmentation

abnormal retina pigment epithelium morphology ( J:175566 )

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

nervous system

abnormal retina photoreceptor morphology ( J:175566 )

• 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

abnormal photoreceptor outer segment morphology ( J:175566 )

• 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

abnormal retina cone cell morphology ( J:175566 )

• excessive S-cone photoreceptors exhibit abnormal accumulations of materials

increased retina cone cell number ( J:175566 )

• excessive S-cone photoreceptor population

retina photoreceptor degeneration ( J:175566 )

• photoreceptor degeneration is seen by 8 weeks of age

retina cone cell degeneration ( J:241970 )

• 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