Phenotypes Associated with This Genotype

Genotype
MGI:4367994

• Allelic Composition: Cngb3^tm1Dgen/Cngb3^tm1Dgen
• Genetic Background: involves: C57BL/6

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

vision/eye

decreased retina cone cell number ( J:154304 )

• cone density is reduced 40% compared to in wild-type mice

abnormal retina cone cell outer segment morphology ( J:154304 )

• cones in the outer segment are short, abnormal, and disorganized unlike in wild-type mice

short retina cone cell outer segment ( J:154304 )

disorganized photoreceptor outer segment ( J:154304 )

• cones, but not rods, are disorganized in the outer segment unlike in wild-type mice

retina cone cell degeneration ( J:154304 )

• cone density is reduced 40% compared to in wild-type mice

abnormal eye physiology ( J:154304 )

• under photopic conditions, mice exhibit a 20% decrease in visual acuity compared with wild-type mice

• however, contrast sensitivity is normal at lower spatial frequencies

increased retina apoptosis ( J:154304 )

• photoreceptor apoptosis is increased 3 and 5 times at P15 and P30, respectively, compared to in wild-type mice

abnormal cone electrophysiology ( J:154304 )

• mice exhibit a 75% decrease in photopic response compared with wild-type mice

nervous system

decreased retina cone cell number ( J:154304 )

• cone density is reduced 40% compared to in wild-type mice

abnormal retina cone cell outer segment morphology ( J:154304 )

• cones in the outer segment are short, abnormal, and disorganized unlike in wild-type mice

short retina cone cell outer segment ( J:154304 )

disorganized photoreceptor outer segment ( J:154304 )

• cones, but not rods, are disorganized in the outer segment unlike in wild-type mice

retina cone cell degeneration ( J:154304 )

• cone density is reduced 40% compared to in wild-type mice

cellular

increased retina apoptosis ( J:154304 )

• photoreceptor apoptosis is increased 3 and 5 times at P15 and P30, respectively, compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achromatopsia 3		DOID:0110008	OMIM:262300	J:154304