Gene Summary

Name:
ciliary rootlet coiled-coil, rootletin
Synonyms:
N/A

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 exploration in new environment Croccem1(IMPC)Bay HOM Early adult 9.02×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Crocc 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 Crocc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Recurrent lower respiratory tract infections, Recurrent upper respiratory trac... OMIM:619446
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Microlissencephaly
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy ORPHA:1083
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Brain atrophy, Cerebral atrophy ORPHA:85179
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Combined Immunodeficiency, X-Linked
Pneumonia, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis OMIM:617638
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Optic disc hypoplasia, Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy, Bronchiectasis OMIM:616632
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Cerebral cortical atrophy, Bronchiolitis, Periodontitis, Recurrent otitis media OMIM:266265
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Cerebral atrophy, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis OMIM:269840
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, Recurrent respiratory in... ORPHA:217390
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re... ORPHA:229717
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis, Recurrent upper ... ORPHA:397596
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Bronchiectasis, Rod-cone dystrophy, Macular atrophy OMIM:615434
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Facial palsy, Erythema nodosum, Abnormal pulmonary int... OMIM:612387
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:619971
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... ORPHA:449280
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology, Aspiration p... ORPHA:90117
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Allergic Bronchopulmonary Aspergillosis
Emphysema, Cerebral cortical atrophy, Bronchiectasis ORPHA:1164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Chronic oral candidiasis OMIM:300400
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur... OMIM:620321
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hypers... ORPHA:1163
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Eczematoid dermatitis OMIM:607271
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:608184
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... OMIM:615207
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Respiratory tract infecti... ORPHA:31202
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Perianal abscess, Gastritis, Recurrent respirator... OMIM:618108
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent upper respiratory tract infections, Rheumatoid arthritis,... ORPHA:183675
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema nodosum, Inflam... ORPHA:3392
Immunodeficiency 62
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Immunodeficiency 32B
Pneumonia, Recurrent respiratory infections, Bronchiectasis, Sinusitis OMIM:226990
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia ORPHA:2590
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, Chronic oral candidiasis ORPHA:169160
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia, Retinal degen... ORPHA:79264
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis OMIM:614069
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Aspiration pneumonia ORPHA:216866
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Pyoderma, Emphysema, Recurrent bronchopulmonary infec... OMIM:242700
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Bronchiectasis, Chronic bronchitis, Sinusitis OMIM:242860
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous a... OMIM:619752
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Roifman-Chitayat Syndrome
Pneumonia, Optic atrophy, Arthritis OMIM:613328
Alpha-Mannosidosis, Adult Form
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Optic disc pallor, Subcortical cerebral... ORPHA:309288
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Salmonella osteomyelitis OMIM:209950
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmonary pneumatocele, Pl... ORPHA:36238
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:618986
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious pneumonia,... ORPHA:723
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibrosis,... OMIM:618394
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Chronic oral candidiasis OMIM:150550
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin... ORPHA:486
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Primary Ciliary Dyskinesia
Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract infection, Chron... ORPHA:244
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi... OMIM:616100
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Bronchiectasis, Aspiration pneumonia OMIM:618253
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Recurrent aspiration pneumonia, Neuronal loss in central nervous system ORPHA:204
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Skin rash, Chronic oral candidiasis,... ORPHA:911
Mohr-Tranebjaerg Syndrome
Optic atrophy, Global brain atrophy, Abnormality of somatosensory evoked potentials, Aspiration p... ORPHA:52368
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Emphysema, Recurrent bronchitis, Otitis media, Recurrent respiratory i... ORPHA:1572
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Respiratory tract infection, Infectiou... ORPHA:36234
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M... ORPHA:39812
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis OMIM:619652
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Hepatitis, Keratitis, Bronchitis, Osteomyelit... ORPHA:2552
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio... ORPHA:31204
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, Conjunct... ORPHA:454836
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Cryptococcosis
Pneumonia, Cerebral cortical atrophy, Abnormal optic nerve morphology, Osteomyelitis, Nodular pat... ORPHA:1546
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Facial palsy, Facial diplegia ORPHA:98905
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Brain atrophy, Retinal coloboma OMIM:258865
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent respi... OMIM:601495
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Aspiration pneumonia, Abnormality of peripheral nerve conducti... ORPHA:35069
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... ORPHA:420741
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Congenital Syphilis
Pneumonia, Optic atrophy, Keratitis, Chorioretinitis, Synovitis, Pancreatitis, Myocarditis, Rhini... ORPHA:499009
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Pancreatitis, Aspiration pneumonia ORPHA:431361
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Recurrent streptoco... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Chronic mucocutaneous candidiasis, Skin rash, Recurrent cutaneous fungal infections, R... ORPHA:276
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Endocarditis, Epididymi... ORPHA:1304
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Macular edema, Skin rash, Abnormal retinal vascular morphology, Retinal neovasculariza... ORPHA:247691
Omenn Syndrome
Pneumonia, Erythroderma, Thyroiditis ORPHA:39041
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Zygomycosis
Abnormal cranial nerve morphology, Pustule, Retinal detachment, Acute infectious pneumonia, Endoc... ORPHA:73263
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent lower ... OMIM:600802
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectious encephalitis, My... ORPHA:781
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Cerebral atrophy ORPHA:79243
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Sinusitis, Recurrent lower... OMIM:613179
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Brain atrophy, Aspiration pneumonia ORPHA:314655
Gm1 Gangliosidosis
Optic atrophy, Cherry red spot of the macula, Aspiration pneumonia, Infectious encephalitis, Abno... ORPHA:354
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent otitis media, Pyoderma, Recurrent ... OMIM:300755
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Aspiration pneumonia OMIM:619167
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia OMIM:616430
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Chronic otitis media ORPHA:169090
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Optic disc coloboma OMIM:300472
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Ple... ORPHA:829
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Skin rash,... ORPHA:228123
Bloom Syndrome
Pneumonia, Bronchitis, Skin rash, Otitis media, Respiratory tract infection, Retinopathy, Rhiniti... ORPHA:125
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Otitis media OMIM:602450
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Shigellosis
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Listeriosis
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust... ORPHA:533
Hennekam-Beemer Syndrome
Pneumonia, Optic atrophy ORPHA:2135
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Cerebellar atrophy, Hepatitis, Cerebral atrophy... OMIM:615846
Leukocyte Adhesion Deficiency
Pneumonia, Cerebral atrophy, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis medi... ORPHA:2968
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Central nervous system degeneration, Aspiration pneumonia,... ORPHA:581
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Pustular rash, Hepatitis, Bronchitis, Recurrent otitis media, Osteomyelitis, Skin rash... OMIM:619381
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Cherry red spot of the macula, Aspiratio... ORPHA:845
Bickerstaff Brainstem Encephalitis
Pneumonia, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono... ORPHA:79138
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the cerebrum, Autonomic bladd... ORPHA:99027
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pleural effusion, Chorioretinitis, Iridocyclitis,... OMIM:181000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Pulmonary hemorrhage, Recurr... ORPHA:79124
Chops Syndrome
Optic atrophy, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Alpha-Mannosidosis, Infantile Form
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Otitis media, Optic disc pallor, Subcor... ORPHA:309282
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Diffuse cerebral atrophy, Aspiration pneumonia ORPHA:79255
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Sinusitis, Facial palsy ORPHA:68
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Pancreatitis, Myocarditis, Septic arthritis, Pleuritis, A... ORPHA:544482
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis, Cerebral atrophy OMIM:230900
Cornelia De Lange Syndrome 1
Pneumonia, Optic atrophy, Otitis media, Optic disc coloboma OMIM:122470
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Abnormal optic disc morphology, Subretinal deposits, Recurrent ... ORPHA:397715
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Facial diplegia ORPHA:70
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis, Recurrent aspiration pneumonia, Opt... ORPHA:221139
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Cerebral atrophy, Aspiration pneumonia, Recurrent a... OMIM:602535
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Seborrheic dermatitis, Cerebellar atrophy, Aspiration pneumonia OMIM:301072
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Osteoarthritis ORPHA:2298
Shwachman-Diamond Syndrome
Pneumonia, Eczematoid dermatitis, Osteomyelitis, Skin rash, Sinusitis ORPHA:811
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, A... ORPHA:340
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Cholera
Aspiration pneumonia ORPHA:173
Dyskeratosis Congenita, Autosomal Dominant 1
Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology, Aspiration pneumonia ORPHA:94093
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Recurrent skin infections ORPHA:79404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... ORPHA:95455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Cerebellar atrophy, Blephar... ORPHA:280633
Degcags Syndrome
Pneumonia, Rhinitis OMIM:619488
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Optic atrophy, Recurrent otitis media, Conjunctivitis, Recurrent ... OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Retinopathy, Otitis media ORPHA:353281
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Niemann-Pick Disease Type C
Cerebral atrophy, Aspiration pneumonia, Cerebellar vermis atrophy, Frontal cortical atrophy, Abno... ORPHA:646
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Lafora Disease
Recurrent aspiration pneumonia, Brain atrophy, Giant somatosensory evoked potentials ORPHA:501
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Pulmonary edema, Per... OMIM:619991
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353277
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Aspiration pneumonia ORPHA:93924
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abnormality of the autonomic nervous system, Abnormality of peripheral ... ORPHA:642
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia OMIM:612289
Doors Syndrome
Optic atrophy, Aspiration pneumonia ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Aspiration pneumonia ORPHA:438213
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Interstitial pneumonitis, Cherry red spot of the macula ORPHA:77293
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Photoreceptor layer loss on macular OCT, Rod-cone dystrophy, Pericarditis 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 Crocc

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 Crocc.

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

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
Croccem1(IMPC)Bay Exon Deletion Mice
Crocctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crocctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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