Phenotypes Associated with This Genotype

Genotype
MGI:6275192

• Allelic Composition: Cngb3^cpfl10/Cngb3^cpfl10
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

vision/eye

decreased retina cone cell number ( J:269211 )

• progressive and more severe than expected with normal aging

• not as severe as in mice homozygous for Cngb3^tm1Dgen

retina cone cell degeneration ( J:269211 )

abnormal cone electrophysiology ( J:269211 )

• completely absent or substantially reduced light-adapted cone responses

• however, dark-adapted rod response is normal

nervous system

decreased retina cone cell number ( J:269211 )

• progressive and more severe than expected with normal aging

• not as severe as in mice homozygous for Cngb3^tm1Dgen

retina cone cell degeneration ( J:269211 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achromatopsia 3		DOID:0110008	OMIM:262300	J:269211