Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CD14 antigen
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cd14 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 Cd14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis OMIM:166700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Melorheostosis
Increased bone mineral density, Hyperostosis, Arthritis, Lymphedema, Ectopic ossification in musc... ORPHA:2485
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Arthritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Pedal edema ORPHA:564003
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morphology, Increased bone mineral densit... ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Immunodeficiency 32B
Anemia, Recurrent infections, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombo... OMIM:226990
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Bronchiolitis, Recurrent otitis media OMIM:266265
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Abnormal circulating interleu... ORPHA:70578
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... ORPHA:210110
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Polyhydramnios, Edema ORPHA:1423
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Immunodeficiency 108 With Autoinflammation
Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Increased circulating IgM level ORPHA:37748
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Peripheral edema,... ORPHA:57777
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Advanced tarsal ossification, Generalized osteosclerosis, Fetal ... OMIM:215045
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r... ORPHA:158061
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Onychomycosis, Granuloma, Recurren... OMIM:618935
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Weight loss, Pedal... ORPHA:330001
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemothorax, Abnormal pulmonary vein morphol... ORPHA:199241
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:306400
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Systemic Capillary Leak Syndrome
Pulmonary edema, Pedal edema, Pleural effusion, Weight loss ORPHA:188
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Decreased circulating antibody level, Generalized edema, Decreas... ORPHA:79330
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Chilblains OMIM:615010
Majeed Syndrome
Increased bone mineral density, Cachexia, Synovitis, Failure to thrive, Flexion contracture, Weig... ORPHA:77297
Preeclampsia
Pulmonary edema, Small for gestational age ORPHA:275555
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... ORPHA:3243
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Decrea... OMIM:614856
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu... ORPHA:540
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Failure ... OMIM:259700
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent... OMIM:214500
High Altitude Pulmonary Edema
Pulmonary edema ORPHA:330012
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... OMIM:613470
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Pleural effusion, Ascites, Generalized edema, Peripheral edema ORPHA:64739
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Recurrent respiratory infections ORPHA:75249
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Coa... ORPHA:1782
Diastrophic Dysplasia
Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility, Re... ORPHA:628
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Spondyloepiphyseal Dysplasia Tarda
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... ORPHA:93284
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Japanese Encephalitis
Pulmonary edema, Stiff neck, Increased circulating antibody level, Elbow flexion contracture, Inc... ORPHA:79139
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Small for gestational age, Coronal craniosynostosis OMIM:616943
Poems Syndrome
Increased circulating antibody level, Pleural effusion, Sclerosis of hand bone, Ascites, Pericard... ORPHA:2905
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema OMIM:105210
Albers-Schönberg Osteopetrosis
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... ORPHA:53
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Osteoporosis, Failure to thrive, Ankylosis, Macular s... OMIM:239000
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Werner Syndrome
Lipoatrophy, Increased bone mineral density, Neoplasm of the lung, Osteoporosis, Pulmonary artery... ORPHA:902
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Enamel hypomineralization ORPHA:3352
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Panhypogammaglo... ORPHA:79124
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Chilblains OMIM:612952
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... ORPHA:85435
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hellp Syndrome
Generalized edema, Pulmonary edema, Increased body weight, Pleural effusion ORPHA:244242
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Enamel hypoplasia, Increased bone density with cystic changes, Di... ORPHA:94089
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hydrops fetalis, Increased circulating antibody level... ORPHA:77261
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone diaphyses,... OMIM:131300
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema, Anasarca OMIM:261740
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentration OMIM:620514
Tako-Tsubo Cardiomyopathy
Mildly elevated creatine kinase, Pulmonary edema, Obesity, Abnormal circulating B-type natriureti... ORPHA:66529
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... OMIM:112250
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Decreased body weight, Pleura... ORPHA:340
Cocaine Intoxication
Pneumothorax, Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentration, Pu... ORPHA:90068
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Coronal c... ORPHA:763
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Increased bone mineral density, Pleural effusion, Ost... ORPHA:35687
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Ogden Syndrome
Pulmonary edema, Inguinal hernia, Lymphedema, Pulmonary artery stenosis, Minimal subcutaneous fat... OMIM:300855
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Decreased circulating IgG level, Abnormal trabecular bone morpholo... OMIM:612301
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Polyhydramnios OMIM:618541
Ethylene Glycol Poisoning
Pulmonary edema, Cerebral edema ORPHA:31826
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Gaucher Disease
Osteopenia, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Increased circulating an... ORPHA:355
Scorpion Envenomation
Edema, Pulmonary edema, Increased circulating creatine kinase MB isoform, Increased circulating N... ORPHA:466677
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis, Anomalous pulmonary venous return ORPHA:35107
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... OMIM:224300
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Massively thickened long bone ... ORPHA:1798
Trichothiodystrophy
Osteopenia, Panhypogammaglobulinemia, Increased bone mineral density, Recurrent bronchopulmonary ... ORPHA:33364
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory... ORPHA:980
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Omphalocele, Failu... ORPHA:90652
Schwartz-Jampel Syndrome
Polyhydramnios, Flexion contracture of toe, Inguinal hernia, Increased bone mineral density, Cach... ORPHA:800
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Decreased osteoclast count, ... OMIM:259720
Liver Disease, Severe Congenital
Pulmonary edema, Inguinal hernia, Hypoproteinemia, Ascites, Failure to thrive, Elevated circulati... OMIM:619991
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis... ORPHA:2968
Histiocytoid Cardiomyopathy
Failure to thrive, Pulmonary edema ORPHA:137675
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Inguinal hernia, Increase... ORPHA:2658
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Seve... ORPHA:544482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent infections, Recurrent Aspergillus ... ORPHA:391487
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Enamel hypoplasia, Pulmonary hypopl... OMIM:259775
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Desmosterolosis
Total anomalous pulmonary venous return, Failure to thrive, Generalized osteosclerosis, Arthrogry... OMIM:602398
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema ORPHA:73224
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Increased bone mineral density, Synostosis of joints, Pulmonary ... ORPHA:50945
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Pulmonary artery hypoplasia, P... ORPHA:3384
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Dehydration, Pathologic fracture OMIM:259900
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones OMIM:127000
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Small for gestational age, Inguinal hernia, Pulmonary edema OMIM:220111
Atypical Werner Syndrome
Lipoatrophy, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Gener... ORPHA:79474
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Recurrent respiratory infections, Patchy osteosclerosis ORPHA:2323
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa... ORPHA:811
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Increased bone mineral density, Ectopic ossification, Hyperostosis ... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Enamel hypoplasia, Obesity, Ectopic ossification ORPHA:79444
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia, Abnormal circulating interleukin con... ORPHA:69665
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Cleidocranial Dysplasia 1
Increased bone mineral density, Enamel hypoplasia, Delayed pubic bone ossification, Increased sus... OMIM:119600
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones OMIM:620558
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Pulmonary artery stenosis, Craniosynostosis, Recurre... ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Elevated circulating creatine kinase concentration, Failure to thrive, Oligohydram... ORPHA:2785
Williams Syndrome
Osteopenia, Inguinal hernia, Increased bone mineral density, Abnormal dental enamel morphology, E... ORPHA:904
Peripartum Cardiomyopathy
Increased circulating interferon-gamma concentration, Myocarditis ORPHA:563
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Gastritis, Increased circulating antibody ... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:256040
Sclerosteosis 1
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... OMIM:269500
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Failure to thrive, Thickened cortex of ... OMIM:269150
Aicardi-Goutières Syndrome
Panniculitis, Increased circulating interferon-gamma concentration, Arthritis, Myositis, Chilblains ORPHA:51
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Cd14

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 Cd14.

No publications found that use IMPC mice or data for Cd14.

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
Cd14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cd14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cd14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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