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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Reep6em2Ruch
endonuclease-mediated mutation 2, Rui Chen
MGI:6120531
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Reep6em2Ruch/Reep6em2Ruch involves: C57BL/6 * C57BL/6J MGI:6189549


Genotype
MGI:6189549
hm1
Allelic
Composition
Reep6em2Ruch/Reep6em2Ruch
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Reep6em2Ruch mutation (0 available); any Reep6 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system

vision/eye
• the stacking of the discs in the outer segment (OS) is slightly disoriented and non-uniform at P20 and by 6 months of age, photoreceptors are greatly reduced and disorganized, with shortened, fragmented OS
• by 6 months of age, photoreceptors have shorted and fragmented outer segment
• expansion of the distal endoplasmic reticulum (near the base of the outer segment) in the rods
• increase in the number of mitochondria in the ellipsoid region of rods
• mice exhibit progressive photoreceptor degeneration from P20 onwards
• progressive thinning of the outer nuclear layer (ONL), with mild thinning at P20, severe thinning at 2 months, and only 40% of ONL rows remaining in the retina at 4 months of age
• electroretinograms show that photoreceptor dysfunction precedes degeneration
• full-field electroretinography of dark-adapted mice shows a reduction in the scotopic response to light as early as P20, with both the a-wave and b-wave amplitudes deceased and severely reduced amplitudes at 2 and 4 months of age
• full-field electroretinography of dark-adapted mice shows a reduction in the scotopic response to light as early as P20, with both the a-wave and b-wave amplitudes deceased and severely reduced amplitudes at 2 and 4 months of age

nervous system
• the stacking of the discs in the outer segment (OS) is slightly disoriented and non-uniform at P20 and by 6 months of age, photoreceptors are greatly reduced and disorganized, with shortened, fragmented OS
• by 6 months of age, photoreceptors have shorted and fragmented outer segment
• expansion of the distal endoplasmic reticulum (near the base of the outer segment) in the rods
• increase in the number of mitochondria in the ellipsoid region of rods
• mice exhibit progressive photoreceptor degeneration from P20 onwards

cellular
• marker analysis indicates ER stress in photoreceptor cells





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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory