Phenotypes Associated with This Genotype

Genotype
MGI:5474861

• Allelic Composition: Rho^tm2.1Kpal/Rho^tm2.1Kpal
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac

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

Progressive retinal degeneration in heterozygous and homozygous Rho^tm2.1Kpal mice

vision/eye

vision/eye phenotype ( J:194158 )

N • mice exhibit normal phototransduction efficiency

abnormal ocular fundus morphology ( J:194158 )

• autofluorescent spots

abnormal retina morphology ( J:194158 )

• mice exhibit a slight increase in free opsin accumulation

abnormal retina photoreceptor morphology ( J:194158 )

• disordered photoreceptor disc structures that disrupt normal phagocytosis

• mislocalization of rhodopsin

decreased retina photoreceptor cell number ( J:194158 )

• most photoreceptors disappear by 4 months

disorganized photoreceptor outer segment ( J:194158 )

• with loosened and irregular shaped discs and inclusions

retina photoreceptor degeneration ( J:194158 )

• at 2 months, especially in the outer nuclear layer

• most photoreceptors disappear by 4 months

thin retina outer nuclear layer ( J:194158 )

• almost gone by 4 months

retina detachment ( J:194158 )

• in some regions

abnormal cone electrophysiology ( J:194158 )

• near complete loss by 4 months

abnormal rod electrophysiology ( J:194158 )

• attenuated by 2 months

nervous system

microgliosis ( J:194158 )

• Muller/macrophage/microglial cell activation in retinas

abnormal retina photoreceptor morphology ( J:194158 )

• disordered photoreceptor disc structures that disrupt normal phagocytosis

• mislocalization of rhodopsin

decreased retina photoreceptor cell number ( J:194158 )

• most photoreceptors disappear by 4 months

disorganized photoreceptor outer segment ( J:194158 )

• with loosened and irregular shaped discs and inclusions

retina photoreceptor degeneration ( J:194158 )

• at 2 months, especially in the outer nuclear layer

• most photoreceptors disappear by 4 months

immune system

microgliosis ( J:194158 )

• Muller/macrophage/microglial cell activation in retinas

hematopoietic system

microgliosis ( J:194158 )

• Muller/macrophage/microglial cell activation in retinas