banner
Genes Phenotypes Help, News, Blog

Gene: C1qc MGI:88225

Log in to follow

Gene Summary

Name:
complement component 1, q subcomponent, C chain
Synonyms:
C1qg

Order Alleles

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
decreased grip strength C1qcem1(IMPC)J HOM Early adult 1.64×10-05
abnormal startle reflex C1qcem1(IMPC)J HOM Late adult 2.58×10-05
abnormal autopod morphology C1qcem1(IMPC)J HOM Late adult 9.47×10-09
increased circulating calcium level C1qcem1(IMPC)J HOM Late adult 7.06×10-06
increased circulating aspartate transaminase level C1qcem1(IMPC)J HOM Late adult 2.19×10-14
increased circulating total protein level C1qcem1(IMPC)J HOM   Late adult 4.07×10-05
increased circulating alanine transaminase level C1qcem1(IMPC)J HOM Late adult 1.51×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Skull Lateral Orientation

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

View images

Human diseases caused by C1qc 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.

The table below shows human diseases associated to C1qc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
C1Q Deficiency 3
OMIM:620322

The table below shows human diseases predicted to be associated to C1qc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar creases ORPHA:1116
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia ORPHA:436
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... OMIM:241600
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of the capital f... ORPHA:557003
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Hypercalcemia OMIM:614732
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Clinodactyly of the 5th finger, Hypoproteinemia, Single transverse palmar crease OMIM:608093
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Non-Functioning Paraganglioma
Tremor, Hypercalcemia ORPHA:94080
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Metaphyseal cupping... OMIM:241500
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodysplasia, Clubbing of fingers, Hypop... OMIM:156400
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Abnormality of the hand, Tapered finger, Tremor, Unilateral radial aplasia, Partia... ORPHA:476126
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Femoral bowing, Osteosclerosis of the ulna OMIM:602080
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Infantile Myofibromatosis
Abnormal metaphysis morphology, Hypercalcemia ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Clubbing of fingers, Clubbing, Hypoalbuminemia OMIM:226300
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Metaphyseal irregularity, Hypophosphatemia OMIM:239200
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Elbow flexion contracture, Short femoral neck OMIM:618440
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures ORPHA:36913
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Dengue Fever
Hypoproteinemia ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Monosomy 13Q34
Postaxial foot polydactyly, Postaxial hand polydactyly, Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia ORPHA:276621
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Ring Chromosome 10 Syndrome
Sandal gap, Hypocalcemia, Tapered finger ORPHA:1438
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia OMIM:235255
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... OMIM:612462
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Bowing of the legs ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Enlargement of the wrists, Femoral bowing, Tibial bowing, Fibular bowing, Hyp... OMIM:600081
Kenny-Caffey Syndrome, Type 1
Short palm, Small hand, Short foot, Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Genu valgum, Hypocalcemia, Abnormal metacarpal morphology, Abnormal metaphysis morphology, Short ... ORPHA:53
Leptospirosis
Hyperproteinemia ORPHA:509
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal morphology of ulna, Hyperca... ORPHA:249
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... ORPHA:99845
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia ORPHA:1655
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia OMIM:175500
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Subperiosteal bone resorption, Enlargement of the wrists, Femoral bowing, Tib... OMIM:264700
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia ORPHA:29072
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Hypocalcemia, Short distal phalanx of finger ORPHA:1563
Pheochromocytoma
Hypercalcemia OMIM:171300
Intermediate Osteopetrosis
Hypocalcemia, Erlenmeyer flask deformity of the femurs ORPHA:210110
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism Type 1B
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp... ORPHA:94089
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Omenn Syndrome
Hypoproteinemia OMIM:603554
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis morphology, Coarse m... ORPHA:93160
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia, Upper limb undergrowth ORPHA:369837
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Hypocalcemic seizures, Hy... ORPHA:79444
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal femur morphology, Abnormal fibula morphology, Tibial bo... ORPHA:352540
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly OMIM:601005
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of the wrists, Ti... ORPHA:289157
Gracile Bone Dysplasia
Flared metaphysis, Hypocalcemia, Brachydactyly OMIM:602361
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... OMIM:607143
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype... ORPHA:94093
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Cho... ORPHA:79443
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Femur fracture, Hypocalcemia, Coxa vara OMIM:259700
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta... OMIM:103580
Sanjad-Sakati Syndrome
Short foot, Hyperphosphatemia, Small hand, Hypocalcemia ORPHA:2323
Cholera
Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmoplantar cutis laxa ORPHA:173
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Writer's cramp, Hypomagnesemia ORPHA:428
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Diaphyseal sclerosis, Erlenmeyer flask deformity of the femurs, Hypocalcemia OMIM:618476
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity ... OMIM:127000
Grfoma
Hypercalcemia, Palmoplantar hyperhidrosis ORPHA:97261
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Ppoma
Hypercalcemia ORPHA:97278
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Somatostatinoma
Hypercalcemia ORPHA:97283
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... ORPHA:175
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Distal upper limb musc... ORPHA:845
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Overlapping toe OMIM:618598
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Equinus calcaneus ORPHA:746
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, 2-3 toe syndactyly, Bulbou... ORPHA:163979
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Overlapping toe, Elbow flexion contracture, Talipes equinovarus, Ha... OMIM:617301
Williams Syndrome
Hallux valgus, Hypercalcemia, Elevated circulating creatine kinase concentration, Tremor, Genu va... ORPHA:904
Craniofacioskeletal Syndrome
Small hand, Short foot, Hypocalcemia, Short palm, Clinodactyly of the 5th finger, Brachydactyly OMIM:300712
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation OMIM:618056
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... OMIM:218330
Pierson Syndrome
Hypoproteinemia OMIM:609049
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Large hands, Hypoasparaginemia OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Single transverse palmar c... ORPHA:521426
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Sotos Syndrome
Hypercalcemia, Tremor, Bilateral camptodactyly, 2-3 toe syndactyly, Increased arm span, Large han... ORPHA:821
Velocardiofacial Syndrome
Hypocalcemia, Abnormality of the hand OMIM:192430
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Tremor, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis morphology ORPHA:667
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Williams-Beuren Syndrome
Hallux valgus, Hypercalcemia, Radioulnar synostosis, Clinodactyly of the 5th finger OMIM:194050
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly... OMIM:617527
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Sarcoidosis
Hypercalcemia ORPHA:797
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Flattened femoral head, Broad long bone diaphyses, Broad ... ORPHA:79255
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... ORPHA:93325
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia ORPHA:2929
Hennekam Syndrome
Finger syndactyly, Hypocalcemia, Camptodactyly of finger ORPHA:2136
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Enlargement of the wrists, Coxa vara, Tibial bowing, Hypophosphatemic ric... ORPHA:289176
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Dystonia, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly OMIM:620330
22Q11.2 Deletion Syndrome
Arachnodactyly, Hand polydactyly, Talipes equinovarus, Hypocalcemia, Foot polydactyly ORPHA:567
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger OMIM:618367
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Single transverse palmar crease, Tapered finger, Elbow f... OMIM:619503
Charge Syndrome
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Absent radius, Short thumb, Hand monodac... OMIM:214800
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Single transverse palmar crease, Tapered finger, Short t... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Single transverse palmar crease, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... OMIM:243800
C1Q Deficiency 3
OMIM:620322

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 C1qc

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 C1qc.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Complement in breast milk modifies offspring gut microbiota to promote infant health. Cell (January 2024) C1qcem1(IMPC)J 38242132

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
C1qcem1(IMPC)J Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter