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Gene: C1ql2 MGI:3032521

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Gene Summary

Name:
complement component 1, q subcomponent-like 2
Synonyms:
CTRP10

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility C1ql2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology C1ql2em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney C1ql2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology C1ql2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by C1ql2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to C1ql2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Hypersplenism, Portal hype... OMIM:619902
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Urogenital sinus anomaly, Abnor... ORPHA:261529
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephritis, Leukopenia, Splenomeg... OMIM:617303
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
H Syndrome
Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Azoospermia, Amenorrhea, Lymphadenopathy, Ab... ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal insufficiency, Lipid accumulation in hepatocytes, Hepatic calcification, Cardiomegaly, Hydr... OMIM:608836
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Pros... ORPHA:449395
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Panc... OMIM:276700
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Irregular menstruation, Nephrocalcinosis, Stage 5 chronic ... ORPHA:79259
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Leukopenia, ... ORPHA:505248
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Splenic cyst, Enlarged kidney OMIM:618188
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Abdominal situs inversus, Polysplenia, Horseshoe kidney, Biliary atresia, Cardiom... OMIM:306955
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf... ORPHA:116
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... ORPHA:500095
Ogden Syndrome
Polycythemia, Microvesicular hepatic steatosis, Cardiomegaly, Iron deficiency anemia, Global glom... OMIM:300855
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Aromatase Deficiency
Female infertility, Hepatic steatosis, Enlarged polycystic ovaries, Hypergonadotropic hypogonadis... ORPHA:91
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Patent urachus, En... OMIM:618280
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Nephro... OMIM:312870
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... ORPHA:744
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... ORPHA:572333
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Female infertility, Horseshoe kid... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Female infertility, Horseshoe kid... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Female infertility, Horseshoe kid... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Female infertility, Horseshoe kid... ORPHA:99226

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for C1ql2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to C1ql2.

No publications found that use IMPC mice or data for C1ql2.

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MGI Allele Allele Type Produced
C1ql2em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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