Phenotypes Associated with This Genotype

Genotype
MGI:4949225

• Allelic Composition: C1qtnf5^tm1.1Itl/C1qtnf5⁺
• Genetic Background: C57BL/6-C1qtnf5^tm1.1Itl

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

vision/eye

abnormal ocular fundus morphology ( J:171089 )

• fundus exhibit accelerated and more pronounced hyperfluorescent spots compared to in wild-type mice

abnormal retina photoreceptor morphology ( J:171089 )

• at 8 months

abnormal photoreceptor inner segment morphology ( J:171089 )

• by 15 months, all inner segments are swollen compared to in wild-type mice

abnormal retina rod cell inner segment morphology ( J:171089 )

• mildly swollen at 12 months

short photoreceptor outer segment ( J:171089 )

abnormal retina cone cell morphology ( J:171089 )

• pyknotic at 12 months

decreased retina cone cell number ( J:171089 )

abnormal retina cone cell inner segment morphology ( J:171089 )

• swelling of cone inner segments at 8 months

• mildly swollen at 12 months

retina cone cell degeneration ( J:171089 )

abnormal retina pigment epithelium morphology ( J:171089 )

• retinal pigmented epithelium (RPE) apical processes are retracted into the sub-retinal space and are no longer surrounded by photoreceptor outer segment compared to in wild-type mice

• RPE contain vacuoles throughout the basal portion of the cytoplasms and nuclei are displaced compared to in wild-type cells

• the RPE exhibits signs of oxidative stress between 5 to 21 months

• at 12 months, the basal portion of the RPE contained vesicular-like or vacuole-like structures with amorphous substances (possibly lipids) unlike in wild-type mice

• at 15 months, mice exhibit sub RPE drusen-like deposits unlike in wild-type mice

thin retina outer nuclear layer ( J:171089 )

increased susceptibility to age-related retinal degeneration ( J:171089 )

• progressive outer retina degeneration

decreased total retina thickness ( J:171089 )

• by 21 months, overall retinal thickness is decreased compared to in wild-type mice

abnormal Bruch membrane morphology ( J:171089 )

• as early as 5 months

abnormal eye electrophysiology ( J:171089 )

• at 18 months, S-cone and M-cone electroretinogram response amplitudes are smaller than in wild-type mice

abnormal cone electrophysiology ( J:171089 )

• cone-mediated b-wave amplitude is lower than in wild-type mice

• defects worsen with time

abnormal rod electrophysiology ( J:171089 )

• dark-adapted a and b-wave amplitudes are smaller than in wild-type mice

• mice exhibit slower recovery of b-wave amplitude compared with wild-type mice

cardiovascular system

increased vascular permeability ( J:171089 )

• at 21 months, retina vasculature leakage is increased compared to in wild-type mice

nervous system

abnormal retina photoreceptor morphology ( J:171089 )

• at 8 months

abnormal photoreceptor inner segment morphology ( J:171089 )

• by 15 months, all inner segments are swollen compared to in wild-type mice

abnormal retina rod cell inner segment morphology ( J:171089 )

• mildly swollen at 12 months

short photoreceptor outer segment ( J:171089 )

abnormal retina cone cell morphology ( J:171089 )

• pyknotic at 12 months

decreased retina cone cell number ( J:171089 )

abnormal retina cone cell inner segment morphology ( J:171089 )

• swelling of cone inner segments at 8 months

• mildly swollen at 12 months

retina cone cell degeneration ( J:171089 )

pigmentation

abnormal retina pigment epithelium morphology ( J:171089 )

• retinal pigmented epithelium (RPE) apical processes are retracted into the sub-retinal space and are no longer surrounded by photoreceptor outer segment compared to in wild-type mice

• RPE contain vacuoles throughout the basal portion of the cytoplasms and nuclei are displaced compared to in wild-type cells

• the RPE exhibits signs of oxidative stress between 5 to 21 months

• at 12 months, the basal portion of the RPE contained vesicular-like or vacuole-like structures with amorphous substances (possibly lipids) unlike in wild-type mice

• at 15 months, mice exhibit sub RPE drusen-like deposits unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
late-onset retinal degeneration		DOID:0060869	OMIM:605670	J:171089