Phenotypes Associated with This Genotype

Genotype
MGI:6423338

• Allelic Composition: Prph2^tm1.1Itl/Prph2⁺
• Genetic Background: Not Specified

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

vision/eye

abnormal ocular fundus morphology ( J:215646 )

• widespread yellow flecks are seen in the fundus at P180 but not at P30

abnormal photoreceptor outer segment morphology ( J:215646 )

• P30 outer segment abnormalities include some lengthening of discs, and accumulation of vesicular structures while some cells are normal

• however, outer segment exhibits better disc sizing, stacking and alignment than in Prph2^Rd2 heterozygotes at P30

abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )

• abnormal disc sizing

• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium

short photoreceptor outer segment ( J:215646 )

• outer segment layers are thinner

retina outer nuclear layer degeneration ( J:215646 )

• the outer nuclear layer is thinner by P180 but not at P30

decreased a-wave amplitude ( J:215646 )

• scotopic a wave amplitude is reduced at P30 and P180

decreased b-wave amplitude ( J:215646 )

• scotopic b wave amplitude is reduced at P30 and P180

• however, phototopic b wave amplitudes are similar to wild-type mice at P30

abnormal rod electrophysiology ( J:215646 )

• scotopic responses are reduced at P30 and P180

• a:b wave ratios are lower than in wild-type mice

nervous system

abnormal photoreceptor outer segment morphology ( J:215646 )

• P30 outer segment abnormalities include some lengthening of discs, and accumulation of vesicular structures while some cells are normal

• however, outer segment exhibits better disc sizing, stacking and alignment than in Prph2^Rd2 heterozygotes at P30

abnormal photoreceptor outer segment disc membrane morphology ( J:215646 )

• abnormal disc sizing

• misorientation of outer segment discs in relation to each other and the axoneme/connecting cilium

short photoreceptor outer segment ( J:215646 )

• outer segment layers are thinner

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patterned macular dystrophy 1		DOID:0060866	OMIM:169150	J:215646