Phenotypes Associated with This Genotype

Genotype
MGI:6259805

• Allelic Composition: Opn1mw^{tm1a(EUCOMM)Wtsi}/Opn1mw^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0788_1_C07, EPD0788_1_C08

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

vision/eye

abnormal retina morphology ( J:249371 )

♀ • M-opsin is absent in both the dorsal and ventral retinas of 2.5 and 10 month old mice

♀ • however, S-opsin expression is comparable to wild-type retinas

decreased b-wave amplitude ( J:249371 )

♀ • cone ERG responses to middle wavelength (510 nm) light stimuli are absent in 2.5 and 10 month old mice, with an absent M-cone b-wave amplitude indicating impaired M-cone function

♀ • however, the b-wave amplitudes of rod mediated scotopic ERGs and short wavelength mediated ERGs (360 nm) in both 2.5 and 10 month old mice are similar to wild-type

♀ • recombinant M-opsin delivered by AAV5 vectors rescues M-cone function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
blue cone monochromacy		DOID:0050679	OMIM:303700	J:249371