Phenotypes associated with this allele

• Allele Symbol: C1qtnf5⁺
• Allele Name: wild type
• Allele ID: MGI:2440308
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	C1qtnf5^tm1.1Itl/C1qtnf5^+	C57BL/6-C1qtnf5^tm1.1Itl	MGI:4949225
ht2	C1qtnf5^tm1.1(KOMP)Vlcg/C1qtnf5^+	B6N(Cg)-C1qtnf5^tm1.1(KOMP)Vlcg/J	MGI:5630918

Genotype
MGI:4949225

ht1

• 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

Genotype
MGI:5630918

ht2

• Allelic Composition: C1qtnf5^{tm1.1(KOMP)Vlcg}/C1qtnf5⁺
• Genetic Background: B6N(Cg)-C1qtnf5^{tm1.1(KOMP)Vlcg}/J
• Cell Lines: 12534A-H11

Data Sources

IMPC Data for C1qtnf5

homeostasis/metabolism

increased fasting circulating glucose level ( J:211773 )

IMPC - JAX

vision/eye

decreased eye anterior chamber depth ( J:364267 )

• at one month of age axial length is not significantly different from controls, but the anterior chamber depth is shorter and the lens is thicker

abnormal lens morphology ( J:364267 )

• by 1 month of age the lens is thicker than normal

microphthalmia ( J:364267 )

• corneal radius of curvature is significantly decreased at 4 months of age

abnormal retina morphology ( J:211773 )

♀

IMPC - JAX