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
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent bacterial infections, Recurrent p... OMIM:613500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Myelolymphatic Insufficiency
Recurrent viral infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent bacteria... OMIM:310350
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Melorheostosis
Lymphedema, Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mine... ORPHA:2485
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pedal edema, Sclerosis of foot bone, Joint stiffness, Knee oste... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis ORPHA:564003
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morphology, Increased bone mineral densit... ORPHA:2204
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, Recurrent respirato... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secretion, Incr... ORPHA:70578
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, I... ORPHA:178320
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Advanced tarsal ossification, Generalized osteosclerosis, Laryng... OMIM:215045
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233710
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Lethal Recessive Chondrodysplasia
Polyhydramnios, Edema, Generalized osteosclerosis ORPHA:1423
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent Staphylococcus aureus infections... OMIM:306400
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased serum interferon-gamma level, Abnormality of interleukin secretion, Pleural effusion, A... ORPHA:542323
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormal bone structure, Lymphedema, Atypical scarring of skin, Flexion contrac... ORPHA:1306
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Prominent nose, Absent frontal sinuses, I... OMIM:265800
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Wild Type Attr Amyloidosis
Pleural effusion, Pedal edema, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary... ORPHA:330001
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Umbilical hernia, Increased bone minera... OMIM:614856
Schnitzler Syndrome
Arthritis, Increased circulating IgM level, Increased bone mineral density ORPHA:37748
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Pneumonia, Atelectasis ORPHA:70587
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphopenia, Impaired oxidative bur... OMIM:618935
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Hypoplastic frontal sinuses, Increased bone mineral density, Wide nas... ORPHA:90650
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Systemic Capillary Leak Syndrome
Pleural effusion, Pedal edema, Pulmonary edema, Weight loss ORPHA:188
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Increased susceptibi... ORPHA:77297
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent gastroenteritis, Chronic oral candidiasi... ORPHA:275
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Pericardial effusion, Pedal edema, Increased bo... ORPHA:77259
Ovarian Hyperstimulation Syndrome
Pleural effusion, Peripheral edema, Pulmonary edema, Ascites, Generalized edema ORPHA:64739
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Impaired neutr... OMIM:214500
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Depressed nasal bridge, Osteopetrosis, Wide nasal bridge ORPHA:1522
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Failure to ... OMIM:259700
Poems Syndrome
Sclerosis of hand bone, Pleural effusion, Pericardial effusion, Lipodystrophy, Increased circulat... ORPHA:2905
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurrent fractures, Increased bone... ORPHA:1782
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density, Joint stiffness,... ORPHA:628
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Increased serum interferon-gamma level, ... ORPHA:540
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Cerebral edema, Pulmonary ... ORPHA:79139
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Recurrent streptococcal infections, V... ORPHA:167
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Short nose, Increased bone mineral density, Delayed patellar ossifica... ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Recurrent fractures, Increased bone mineral density OMIM:239000
Beemer-Ertbruggen Syndrome
Bulbous nose, Wide nasal bridge, Increased bone mineral density ORPHA:1237
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis, Failure to thrive ORPHA:2785
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Recurrent respiratory infections, Pulmonary edema ORPHA:75249
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bo... ORPHA:94089
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Hellp Syndrome
Pleural effusion, Increased body weight, Generalized edema, Pulmonary edema ORPHA:244242
Gaucher Disease Type 3
Hydrops fetalis, Osteolysis, Increased circulating antibody level, Pericardial effusion, Increase... ORPHA:77261
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Ascites OMIM:261740
Cocaine Intoxication
Diffuse alveolar hemorrhage, Pulmonary edema, Hemoptysis, Elevated circulating creatine kinase co... ORPHA:90068
Tako-Tsubo Cardiomyopathy
Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide level, Pulmonary edema, Obesity ORPHA:66529
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Wide nasal bridge, Coarse metaphyseal trabecularization, Increased bone mineral de... ORPHA:2780
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Werner Syndrome
Osteoporosis, Slender build, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Increased bone minera... ORPHA:902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Reduce... OMIM:131300
Ethylene Glycol Poisoning
Cerebral edema, Pulmonary edema ORPHA:31826
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Hydrops fetalis, Pulmonary fibrosis, Increased ci... ORPHA:355
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Massively thickened long bone cortices, Increased bone mineral... ORPHA:1798
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... ORPHA:466677
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Short nose, Synostosis of carpal bones, Hypoplastic f... ORPHA:90652
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Recurrent tonsillitis, Thrombocytosis, Recurrent fungal infections... ORPHA:2968
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Iridocyclitis, Iritis, Uveitis, Abnormality of tumor necrosis factor secretion, Sacroi... ORPHA:85436
Erdheim-Chester Disease
Osteolysis, Joint swelling, Pulmonary fibrosis, Pleural effusion, Weight loss, Increased bone min... ORPHA:35687
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Schwartz-Jampel Syndrome
Osteoporosis, Polyhydramnios, Arthrogryposis multiplex congenita, Flexion contracture of toe, Umb... ORPHA:800
Histiocytoid Cardiomyopathy
Laryngeal web, Pulmonary edema, Failure to thrive ORPHA:137675
Desmosterolosis
Anomalous pulmonary venous return, Short nose, Osteopetrosis, Increased bone mineral density, Fai... ORPHA:35107
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Trichothiodystrophy
Enamel hypoplasia, Craniosynostosis, Panhypogammaglobulinemia, Absence of subcutaneous fat, Umbil... ORPHA:33364
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Short nose, Synostosis of joints, Increased bone mineral density... ORPHA:50945
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnorm... ORPHA:2658
12Q14 Microdeletion Syndrome
Failure to thrive, Prominent nasal bridge, Wide nose, Osteopoikilosis ORPHA:94063
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Short nose, Choanal atresia, Increased bon... OMIM:259775
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Desmosterolosis
Arthrogryposis multiplex congenita, Short nose, Generalized osteosclerosis, Joint contracture of ... OMIM:602398
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Decreased circulating IgA level, Recurrent pn... OMIM:612301
X-Linked Hypophosphatemia
Craniosynostosis, Cellulitis, Rickets, Generalized osteosclerosis, Enthesitis, Odontodysplasia, R... ORPHA:89936
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema ORPHA:73224
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Pulmo... ORPHA:3384
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Severe viral infection, Pneumonia, Septic arthritis, Severe infection, Meningitis,... ORPHA:544482
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Osteopetrosis, Autosomal Recessive 5
Ascites, Osteopetrosis OMIM:259720
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Increased bone mineral density, Ectopic ossification, Depressed nasal bridge, ... ORPHA:79444
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Depressed nasal bridge, Recurrent respiratory infections, Patc... ORPHA:2323
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Increased bone mineral density, Obesity, Reduced bone mineral density, Ectopic... ORPHA:79443
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Hypoplastic frontal sinuses, Increased bone m... OMIM:119600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Patchy osteosclerosis OMIM:241410
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Shwachman-Diamond Syndrome
Sepsis, Recurrent bacterial infections, Chronic neutropenia, Neutropenia, Impaired neutrophil che... ORPHA:811
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Chondrocalcinosis, Lipoatrophy, Decreased body weight, Incr... ORPHA:79474
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Sclerosteosis 1
Wide nasal bridge, Cortically dense long tubular bones, Facial palsy secondary to cranial hyperos... OMIM:269500
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Williams Syndrome
Abnormal dental enamel morphology, Joint laxity, Peripheral pulmonary artery stenosis, Failure to... ORPHA:904
Mastocytosis
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly ORPHA:98292
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bone mineral density, Pulmonary art... ORPHA:667
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Abnormal nasopharynx morphology, Short nose, Sclerosis of skull ... OMIM:269150
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... ORPHA:3132
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.

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MGI Allele Allele Type Produced
Cd14tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cd14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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