Phenotypes Associated with This Genotype

Genotype
MGI:7449370

• Allelic Composition: Gt(ROSA)26Sor^{tm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: C57BL/6

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

vision/eye

abnormal eye physiology ( J:319361 )

• mice show late-onset retinal dysfunction

decreased a-wave amplitude ( J:319361 )

• the a-wave amplitude of the maximal ERG response is decreased at 12 months of age, but not at 3 months of age

• the a-wave amplitude of the photopic ERG responses is decreased more than the b-wave amplitude, indicating more involvement of cone dysfunction

• while a-wave amplitude of the scotopic ERG response is slightly decreased, it is not significant

decreased b-wave amplitude ( J:319361 )

• b-wave amplitude of the maximal ERG response is decreased at 12 months of age, but not at 3 months of age

• while b-wave amplitude of the scotopic ERG response is slightly decreased, it is not significant

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy		DOID:0050572		J:319361