Phenotypes Associated with This Genotype

Genotype
MGI:7640026

• Allelic Composition: rd22/rd22
• Genetic Background: B6.Cg-rd22/BocJ

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

reproductive system

reproductive system phenotype ( J:347903 )

N • no sterility observed

nervous system

abnormal retina cone cell morphology ( J:347903 )

retina cone cell degeneration ( J:347903 )

• histology shows significant loss of cone photoreceptors by 2 months of age

abnormal retina rod cell morphology ( J:347903 )

• mislocalization of rod photoreceptors to the inner nuclear layer

abnormal retina rod cell inner segment morphology ( J:347903 )

retina rod cell degeneration ( J:347903 )

cardiovascular system

abnormal retina blood vessel morphology ( J:347903 )

• vessel attenuation evident at 1 month of age

vision/eye

abnormal retina blood vessel morphology ( J:347903 )

• vessel attenuation evident at 1 month of age

abnormal retina cone cell morphology ( J:347903 )

retina cone cell degeneration ( J:347903 )

• histology shows significant loss of cone photoreceptors by 2 months of age

abnormal retina rod cell morphology ( J:347903 )

• mislocalization of rod photoreceptors to the inner nuclear layer

abnormal retina rod cell inner segment morphology ( J:347903 )

retina rod cell degeneration ( J:347903 )

retina degeneration ( J:347903 )

• beginning by 1 month of age. Fundus and OCT both show retinal degeneration

abnormal eye physiology ( J:347903 )

abnormal eye electrophysiology ( J:347903 )

• by 1 month of age no light-adapted ERG response; dark-adapted ERG responses have decreasing amplitudes with age

abnormal cone electrophysiology ( J:347903 )

abnormal rod electrophysiology ( J:347903 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 19		DOID:0111025	OMIM:615860	J:347903