Phenotypes Associated with This Genotype

Genotype
MGI:6492344

• Allelic Composition: Prph2^tm4.1Itl/Prph2⁺
• 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 flecking phenotype by P180, but not at P30, that persists at P365

abnormal photoreceptor outer segment morphology ( J:292411 )

• outer segment structures are irregular compared to wild-type

short photoreceptor outer segment ( J:292411 )

retina photoreceptor degeneration ( J:292411 )

thin retina outer nuclear layer ( J:292411 )

retina outer nuclear layer degeneration ( J:292411 )

• outer nuclear layer degeneration is seen at P30

decreased a-wave amplitude ( J:292411 )

• mice show an approximate 60% reduction in maximum scotopic a-wave amplitude at P30

decreased b-wave amplitude ( J:292411 )

• mice show a reduction in maximum scotopic b-wave amplitude at P30 which persists at P180 and P365

• mice show a reduction in maximum photopic b-wave amplitude at P30 in response to white, UV, and green light, and at P180 and P365 in response to white light

abnormal cone electrophysiology ( J:292411 )

• early onset decline in photopic light evoked responses

• photopic ERG on light-adapted mice indicates that cone function is reduced at P30 and is further reduced at P180 and P365

abnormal rod electrophysiology ( J:292411 )

• early onset decline in scotopic light evoked responses

nervous system

abnormal photoreceptor outer segment morphology ( J:292411 )

• outer segment structures are irregular compared to wild-type

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