Phenotypes Associated with This Genotype

Genotype
MGI:6492346

• Allelic Composition: Prph2^tm4.1Itl/Prph2^tm4.1Itl
• Genetic Background: Not Specified

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

vision/eye

abnormal ocular fundus morphology ( J:292411 )

• fundus exhibits a retinal yellow flecking at P180

• the flecking is masked by large splotchy areas at P365

abnormal retina vasculature morphology ( J:292411 )

• while retinal vasculature appears largely normal at P180, leaky vasculature is seen at P365

abnormal photoreceptor outer segment morphology ( J:292411 )

• outer segment formation is initiated but not completed as indicated by disorganized membranous, disc-like structures and tiny abnormal outer segment structures

abnormal photoreceptor outer segment disc membrane morphology ( J:292411 )

• retinas exhibit highly disorganized membranous, disc-like structures

short photoreceptor outer segment ( J:292411 )

retina photoreceptor degeneration ( J:292411 )

thin retina outer nuclear layer ( J:292411 )

• mice show degeneration/thinning of the outer nuclear layer at P30

retina outer nuclear layer degeneration ( J:292411 )

• mice show degeneration/thinning of the outer nuclear layer at P30

decreased a-wave amplitude ( J:292411 )

• scotopic a-wave amplitude is very low at P30

decreased b-wave amplitude ( J:292411 )

• photopic b-wave amplitude in response to white, UV and green light is very low at P30

• scotopic b-wave amplitude is very low at P30

abnormal cone electrophysiology ( J:292411 )

• reduced photopic response is seen at P30

abnormal rod electrophysiology ( J:292411 )

• little or no scotopic response is seen at P30

cardiovascular system

abnormal retina vasculature morphology ( J:292411 )

• while retinal vasculature appears largely normal at P180, leaky vasculature is seen at P365

nervous system

abnormal photoreceptor outer segment morphology ( J:292411 )

• outer segment formation is initiated but not completed as indicated by disorganized membranous, disc-like structures and tiny abnormal outer segment structures

abnormal photoreceptor outer segment disc membrane morphology ( J:292411 )

• retinas exhibit highly disorganized membranous, disc-like structures

short photoreceptor outer segment ( J:292411 )

retina photoreceptor degeneration ( J:292411 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patterned macular dystrophy 1		DOID:0060866	OMIM:169150	J:292411