Phenotypes Associated with This Genotype

Genotype
MGI:3046056

• Allelic Composition: Rs1^tm1Web/Y
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

Macromorphological evaluation of the Rs1^tm1Web/Y retina with scanning laser ophthalmoscopy

vision/eye

abnormal retina morphology ( J:76332 )

♂ • at 3 months of age, cyst-like structures appear across the entire retina; large cysts in the retinal periphery occasionally displaced superficial vessels

disorganized retina inner nuclear layer ( J:76332 )

♂ • at 2 months of age, a severe disorganization of the inner nuclear layer is present

disorganized retina outer nuclear layer ( J:76332 )

♂ • at 2 months of age, a severe disorganization of the outer nuclear layer is present

abnormal retina photoreceptor layer morphology ( J:76332 )

♂ • extracellular gaps were present between photoreceptor terminals; gaps filled with membraneous whorls and cellular debris

decreased retina cone cell number ( J:76332 )

♂ • three-fold fewer cones were present in mutant retinae

absent photoreceptor outer segment ( J:76332 )

♂ • variable absence of photoreceptor outer segments

abnormal eye electrophysiology ( J:76332 )

♂ • ERG analysis demonstrated a loss of b-waves; a-waves had amplitudes of half the normal state

abnormal cone electrophysiology ( J:76332 )

♂ • ERG responses were absent under light-adapted conditions suggesting dysfunction of the cone system

nervous system

decreased retina cone cell number ( J:76332 )

♂ • three-fold fewer cones were present in mutant retinae

absent photoreceptor outer segment ( J:76332 )

♂ • variable absence of photoreceptor outer segments

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:76332