Gene: Hc MGI:96031

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Gene Summary

Name:
hemolytic complement
Synonyms:
C5a,  C5,  He,  Hfib2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 fasting circulating glucose level Hctm1b(EUCOMM)Wtsi HOM Early adult 8.99×10-05
decreased grip strength Hctm1b(EUCOMM)Wtsi HOM Early adult 8.09×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

12 Images

Eye Morphology

Images Ophthalmoscopy

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Sleep Wake

Wake state (bmp file)

3 Images

X-ray

XRay Images Forepaw

10 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Hc 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 Hc by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Immunodeficiency 32A
Recurrent infections OMIM:614893
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Recurren... ORPHA:319552
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, H... OMIM:231100
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:243700
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis, Elevated hepatic transaminase OMIM:619111
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatomegaly OMIM:602579
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:617475
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent enteroviral infection... OMIM:601495
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Abnormality of endocrine pancreas phy... ORPHA:79230
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis OMIM:615415
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent fungal infections, Recurrent bacte... ORPHA:2688
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Recurrent pneumoni... OMIM:240500
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis OMIM:616629
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Decreased liver function, Sple... OMIM:606003
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Recurrent... OMIM:607594
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurr... ORPHA:572
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct ... OMIM:216360
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Chron... ORPHA:911
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Encephalitis, E... OMIM:307200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly, Portal hyperten... OMIM:263200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Meningitis, Recurrent mycobacterial infe... ORPHA:169090
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fibrosis, Jaundice, Hepatitis, He... ORPHA:186
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Recurrent bact... OMIM:116920
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Periportal fibrosis, Hepatocellular necrosis OMIM:201475
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibrosis, Hep... ORPHA:247585
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Dominant Beta-Thalassemia
Cirrhosis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Chronic hepatitis, Hypersplenism... ORPHA:231226
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepatic fibrosis, Jaundi... ORPHA:731
Beta-Thalassemia Major
Cirrhosis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Hepatomegaly, Hypersplenism, Spl... ORPHA:231214
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, R... ORPHA:486
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212065
Bardet-Biedl Syndrome
Hepatic fibrosis ORPHA:110
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Trichohepatoenteric Syndrome 1
Cirrhosis, Cholestasis, Hepatic fibrosis, Jaundice, Hepatomegaly, Abnormality of the pancreas, He... OMIM:222470
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly OMIM:616263
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Bile... OMIM:208500
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent viral infections, Severe varicel... OMIM:606367
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Biliary tract abnormality OMIM:209900
Adams-Oliver Syndrome
Portal hypertension, Cirrhosis, Congenital hepatic fibrosis ORPHA:974
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent vi... ORPHA:331206
Argininosuccinic Aciduria
Hepatic fibrosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:207900
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Microvesicular hepatic steatosis, Elevated hepatic transaminase, ... ORPHA:275761
Syndromic Diarrhea
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatoblastoma ORPHA:84064
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly ORPHA:14
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Short Rib-Polydactyly Syndrome
Hepatic fibrosis, Hepatic cysts, Abnormality of the liver ORPHA:1505
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Pancreatic cysts OMIM:311200
Cranioectodermal Dysplasia 1
Hepatic cysts, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Hepatic ... OMIM:218330
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Sepsis, Recurrent lower respiratory tract infections, Recurrent bacterial infections OMIM:308230
Immunodeficiency 23
Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylococcus aureus infe... OMIM:615816
Vici Syndrome
Recurrent fungal infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recur... OMIM:242840
Pgm3-Cdg
Recurrent fungal infections, Recurrent viral infections, Recurrent infections, Recurrent pneumoni... ORPHA:443811
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Recurrent abscess formatio... OMIM:608233
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:221139
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatic fibrosis, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly ORPHA:2072
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections OMIM:617053
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly OMIM:269860
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cystic liver disease, Asplenia, Congenit... ORPHA:564
Chromomycosis
Recurrent bacterial infections ORPHA:182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:102700
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bacterial skin... ORPHA:167
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Hepatic fibrosis,... ORPHA:99413
Turner Syndrome
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Hepatic fibrosis,... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Hepatic fibrosis,... ORPHA:99228
Monosomy X
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary cirrhosis, Hepatic fibrosis,... ORPHA:99226
Whim Syndrome
Recurrent upper respiratory tract infections, Meningitis, Recurrent pneumonia, Sepsis, Recurrent ... ORPHA:51636
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent fungal infections, BCGosis, Chronic oral candidiasis, Recurrent ... ORPHA:2968
Shwachman-Diamond Syndrome
Sepsis, Recurrent viral infections, Recurrent bacterial infections ORPHA:811
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Alström Syndrome
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Abnormal liver physiology, Hepatomeg... ORPHA:64
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Pmm2-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology ORPHA:79318
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Hc

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 Hc.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Complement serves as a switch between CD4+ T cell-independent and -dependent RBC antibody responses. JCI insight (November 2018) Hctm1b(EUCOMM)Wtsi PMC6302935
Complement Component 3 Negatively Regulates Antibody Response by Modulation of Red Blood Cell Antigen. Frontiers in immunology (June 2018) Hctm1a(EUCOMM)Wtsi PMC6004516

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MGI Allele Allele Type Produced
Hctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hctm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Hctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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