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 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent 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
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
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
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis OMIM:166700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Lymphedema, Atypic... ORPHA:2485
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... 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
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Mueller-Weiss Syndrome
Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limitation of movement at a... ORPHA:566943
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis, Pedal edema ORPHA:564003
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Hydrops fetalis, Polyhydramnios, Abnormal cortical bone morpholog... ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... OMIM:616022
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... 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 bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233690
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Lethal Recessive Chondrodysplasia
Polyhydramnios, Generalized osteosclerosis, Edema ORPHA:1423
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Hydrops fetalis, Polyhydramnios, Generalized osteosclerosi... OMIM:215045
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema OMIM:267450
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... OMIM:614856
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Arthritis ORPHA:37748
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pedal edema, Pleural effusion, Weigh... ORPHA:330001
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Immune Deficiency Disease
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... OMIM:242850
Cirrhotic Cardiomyopathy
Pulmonary edema, Abnormal A-type atrial natriuretic peptide level, Increased circulating NT-proBN... ORPHA:57777
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Hem... OMIM:618935
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Pneumonia ORPHA:70587
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Pericardial effusion, Pedal edema, P... ORPHA:199241
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:306400
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Systemic Capillary Leak Syndrome
Weight loss, Pedal edema, Pulmonary edema, Pleural effusion ORPHA:188
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary edema, Decreased circ... ORPHA:79330
Gaucher Disease Type 1
Increased circulating antibody level, Increased bone mineral density, Osteopenia, Osteoarthritis,... ORPHA:77259
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leu... OMIM:214500
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Generalized edema, Ascites ORPHA:64739
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Poems Syndrome
Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Lipodystro... ORPHA:2905
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Dysosteosclerosis
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... OMIM:259700
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis ORPHA:98848
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Joint swelling, Increased bone mineral density, Abnormally ossified vertebrae,... ORPHA:93284
Diastrophic Dysplasia
Joint stiffness, Increased bone mineral density, Camptodactyly of finger, Joint hyperflexibility,... ORPHA:628
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Japanese Encephalitis
Increased circulating antibody level, Pulmonary edema, Elbow flexion contracture, Increased circu... ORPHA:79139
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... ORPHA:167
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Recurrent respiratory infections ORPHA:75249
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... ORPHA:53
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis,... OMIM:239000
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Dental enamel pits, Increased bone mineral density ORPHA:3352
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Werner Syndrome
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, N... ORPHA:902
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Tako-Tsubo Cardiomyopathy
Abnormal B-type natriuretic peptide level, Obesity, Pulmonary edema, Mildly elevated creatine kinase ORPHA:66529
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Pulmonary edema, Pericardial effusion OMIM:115197
Hellp Syndrome
Generalized edema, Increased body weight, Pulmonary edema, Pleural effusion ORPHA:244242
Gaucher Disease Type 3
Increased circulating antibody level, Increased bone mineral density, Hydrops fetalis, Abnormal p... ORPHA:77261
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Pulmonary edema OMIM:261740
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bo... ORPHA:94089
Camurati-Engelmann Disease
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Decreased body weight, Pulmonary edema, Pleura... ORPHA:340
Cocaine Intoxication
Pneumothorax, Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentration, Pu... ORPHA:90068
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Ethylene Glycol Poisoning
Pulmonary edema, Cerebral edema ORPHA:31826
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Polyhydramnios OMIM:618541
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, Generalized osteoscl... ORPHA:763
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Ogden Syndrome
Peripheral pulmonary artery stenosis, Pulmonary edema, Inguinal hernia, Lymphedema, Pulmonary hyp... OMIM:300855
Gaucher Disease
Increased circulating antibody level, Joint stiffness, Osteomyelitis, Elevated circulating C-reac... ORPHA:355
Scorpion Envenomation
Edema, Increased circulating NT-proBNP concentration, Pulmonary edema, Increased circulating crea... ORPHA:466677
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Erdheim-Chester Disease
Joint swelling, Osteomyelitis, Increased bone mineral density, Abnormal pulmonary interstitial mo... ORPHA:35687
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk... ORPHA:2968
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, Decreased circul... OMIM:612301
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Desmosterolosis
Osteopetrosis, Failure to thrive, Anomalous pulmonary venous return, Increased bone mineral density ORPHA:35107
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Pulmonary edema, Hypoproteinemia... OMIM:619991
Trichothiodystrophy
Multiple joint contractures, Recurrent bronchopulmonary infections, Increased bone mineral densit... ORPHA:33364
Absence Of The Pulmonary Artery
Pulmonary edema, Pedal edema, Pulmonary hypoplasia, Recurrent pneumonia, Bronchiectasis, Recurren... ORPHA:980
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Ascites, Cranial hyper... OMIM:259720
Histiocytoid Cardiomyopathy
Failure to thrive, Pulmonary edema ORPHA:137675
Schwartz-Jampel Syndrome
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... ORPHA:800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Elbow ankylosis, Osteopetrosis, Joint hyperflexi... ORPHA:2658
X-Linked Hypophosphatemia
Cellulitis, Reduced bone mineral density, Craniosynostosis, Arthritis, Vertebral hyperostosis, Ge... ORPHA:89936
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Severe infection,... ORPHA:544482
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Pericardial effusion ORPHA:73224
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Generalized osteosclerosis, Total anomalous pul... OMIM:602398
Hyperoxaluria, Primary, Type I
Dehydration, Increased bone mineral density, Pathologic fracture OMIM:259900
Raine Syndrome
Increased bone mineral density, Enamel hypoplasia, Pulmonary hypoplasia, Arthrogryposis multiplex... OMIM:259775
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Hydrops fetalis, Synostosis of joints, Polyhydramnios, Pulmonary ... ORPHA:50945
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Truncus Arteriosus
Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery ... ORPHA:3384
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Lipoatrophy, Increased bone mineral density, Reduced bo... ORPHA:79474
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age OMIM:127000
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Sepsis, Aplastic anemia, Normocytic a... ORPHA:811
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Recurrent respiratory infections, Abnormal dental enamel morphology ORPHA:2323
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Ectopic ossification, Obesity, Increased bone mineral density ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Cleidocranial Dysplasia 1
Enamel hypoplasia, Delayed pubic bone ossification, Increased bone mineral density, Increased sus... OMIM:119600
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Osteopetrosis, Elevated circulating creatine kinase conce... ORPHA:2785
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Generalized osteosclerosis ORPHA:416
Mastocytosis
Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Pulmonary art... ORPHA:667
Williams Syndrome
Joint stiffness, Peripheral pulmonary artery stenosis, Increased bone mineral density, Inguinal h... ORPHA:904
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Failure to thrive, Thickened cortex of ... OMIM:269150
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) 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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