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Phenotypes Associated with This Genotype
Genotype
MGI:4949225
Allelic
Composition
C1qtnf5tm1.1Itl/C1qtnf5+
Genetic
Background
C57BL/6-C1qtnf5tm1.1Itl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qtnf5tm1.1Itl mutation (0 available); any C1qtnf5 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• fundus exhibit accelerated and more pronounced hyperfluorescent spots compared to in wild-type mice
• by 15 months, all inner segments are swollen compared to in wild-type mice
• pyknotic at 12 months
• swelling of cone inner segments at 8 months
• mildly swollen at 12 months
• 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
• by 21 months, retinal thickness is decreased compared to in wild-type mice
• progressive outer retinal degeneration
• as early as 5 months
• at 18 months, S-cone and M-cone electroretinogram response amplitudes are smaller than in wild-type mice
• cone-mediated b-wave amplitude is lower than in wild-type mice
• defects worsen with time
• 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
• at 21 months, retina vasculature leakage is increased compared to in wild-type mice

nervous system
• by 15 months, all inner segments are swollen compared to in wild-type mice
• pyknotic at 12 months
• swelling of cone inner segments at 8 months
• mildly swollen at 12 months

pigmentation
• 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 degenration DOID:0060869 OMIM:605670
J:171089


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory