Phenotypes Associated with This Genotype

Genotype
MGI:6693811

• Allelic Composition: Dhdds^tm1.1Sjpi/Dhdds^tm1.1Sjpi; Tg(BEST1-rtTA,tetO-cre)1Yzl/0
• Genetic Background: involves: C57BL/6J * FVB/N

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

vision/eye

abnormal retina morphology ( J:287362 )

• display altered hyperreflective indicative of pathological changes

• descent of the external limiting membrane towards Bruchs membrane is seen

increased retina vascular tortuosity ( J:287362 )

• at 6 and 8 months of age

retina microaneurysm ( J:287362 )

• at 6 and 8 months of age

decreased retina photoreceptor cell number ( J:287362 )

• near total loss of photoreceptors in severely affected regions

abnormal photoreceptor outer segment morphology ( J:287362 )

• shortened, misshapen outer segments are seen throughout the retina

abnormal retina pigment epithelium morphology ( J:287362 )

• transmigration of RPE nuclei and melanosomes into the photoreceptor region (subretinal space and photoreceptor outer segment layer, and even deeper, into the ONL)

retina pigment epithelium atrophy ( J:287362 )

• display a geographic atrophy like retinal pigment epithelium (RPE) with the most degeneration observed mid-centrally throughout the retina

• areas of relatively intact tissue are seen in the periphery

• near total loss of RPE in severely affected regions

thin retina outer nuclear layer ( J:287362 )

• at 1, 2, and 3 months of age

decreased total retina thickness ( J:287362 )

• at 1, 2, and 3 months of age, particularly in the outer layer

decreased b-wave amplitude ( J:287362 )

• b-wave but not a-wave amplitudes are reduced

abnormal cone electrophysiology ( J:287362 )

• photopic responses are significantly lower at 1 month of age

abnormal rod electrophysiology ( J:287362 )

• reduced scotopic a-wave responses at 1 month of age

behavior/neurological

abnormal optokinetic reflex ( J:287362 )

• decrease in photopic and scotopic contrast sensitivity over the range of 0.031 to 0.272 c/d at 3 months of age

• however, no difference in spatial frequency is seen

cardiovascular system

increased retina vascular tortuosity ( J:287362 )

• at 6 and 8 months of age

retina microaneurysm ( J:287362 )

• at 6 and 8 months of age

nervous system

decreased retina photoreceptor cell number ( J:287362 )

• near total loss of photoreceptors in severely affected regions

abnormal photoreceptor outer segment morphology ( J:287362 )

• shortened, misshapen outer segments are seen throughout the retina

pigmentation

abnormal retina pigment epithelium morphology ( J:287362 )

• transmigration of RPE nuclei and melanosomes into the photoreceptor region (subretinal space and photoreceptor outer segment layer, and even deeper, into the ONL)

retina pigment epithelium atrophy ( J:287362 )

• display a geographic atrophy like retinal pigment epithelium (RPE) with the most degeneration observed mid-centrally throughout the retina

• areas of relatively intact tissue are seen in the periphery

• near total loss of RPE in severely affected regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 59		DOID:0110352	OMIM:613861	J:287362