Gene: Crocc MGI:3529431

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ciliary rootlet coiled-coil, rootletin
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 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
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia OMIM:269840
Immunodeficiency 62
Bronchiectasis OMIM:618459
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Otitis media OMIM:608971
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Pneumonia, Brain atrophy ORPHA:85179
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Optic disc hypoplasia, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Cerebral cortical atrophy, Asthma, H... ORPHA:1164
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Cough, Respiratory failure requiring assisted ... ORPHA:90117
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Optic... OMIM:619057
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Otitis media, Arthritis OMIM:601457
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Chronic otitis media, Absent inner and outer dynein arms, Neonatal respira... OMIM:618063
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, R... OMIM:616576
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con... OMIM:607594
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Cerebral cortical ... OMIM:266265
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Ecz... OMIM:618282
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Immunodeficiency 75
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Pne... OMIM:244400
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Inflammatory abnormality of the eye, Recu... ORPHA:229717
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Pneumonia, Maculopapular exanthema, Sinusitis, My... ORPHA:228119
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmonary edema,... ORPHA:70578
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Acute infectious pneum... ORPHA:31202
Caspase 8 Deficiency
Eczema, Asthma, Pneumonia, Recurrent sinopulmonary infections OMIM:607271
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Chronic lung disease, Perianal ab... OMIM:618108
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Chronic oral candidiasis, Recurrent pneumonia OMIM:300400
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:608184
Avian Influenza
Ground-glass opacification, Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Non... ORPHA:454836
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Anteverted nares, Wide nose OMIM:300209
Immunodeficiency 14A, Autosomal Dominant
Recurrent respiratory infections, Bronchiectasis, Recurrent sinopulmonary infections OMIM:615513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Sinusitis, Anteverted nares, Chronic bronchitis, Depressed... OMIM:242860
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Bronchiectasis, Rhinorrhea OMIM:617577
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Pigmentary retinopathy, Cerebral atrophy, Episodic tachypnea, Retinal degeneration, Cerebe... ORPHA:79264
Immunodeficiency 27A
Increased inflammatory response, Salmonella osteomyelitis, Pneumonia, Abnormal bronchus physiolog... OMIM:209950
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Abnormal lower motor neuron morphology, Resp... ORPHA:2590
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis... OMIM:240500
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Roifman-Chitayat Syndrome
Pneumonia, Wide nasal bridge, Depressed nasal bridge, Optic atrophy, Arthritis OMIM:613328
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Pneumonia, Hepatitis, Recurrent pneumonia, Otitis media ORPHA:169160
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent otitis media, Bronchiectasis OMIM:619220
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Cough, Aspiration pneumonia, Rod-cone dystrophy, Optic disc pallor ORPHA:216866
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis OMIM:241600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recurrent respiratory infections OMIM:618523
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Osteomyelitis, E... ORPHA:31204
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Ulcerative colitis, Colitis, Recurrent sinopulmonary infectio... OMIM:618394
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Recurrent resp... OMIM:300853
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency 52
Chronic lung disease, Bronchiectasis, Recurrent pneumonia OMIM:617514
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Chronic pulmonary obstr... OMIM:618131
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Bowing of the v... ORPHA:98897
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Chronic otitis m... ORPHA:1572
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Cerebral atro... ORPHA:204
Timothy Syndrome
Bronchitis, Pneumonia, Depressed nasal bridge OMIM:601005
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Pneumonia, Recurrent sinopulmonary infections, Rhinitis, Recurrent aphthous stomat... ORPHA:486
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Respiratory tract infection, Tachypnea, Respiratory distress, Pneumonia, ... ORPHA:36234
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibrosis, Lymphadenitis, Recurrent otiti... OMIM:618986
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Bronchiectasis OMIM:618982
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythroderma, Hepatiti... ORPHA:139402
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Bronchiolitis, Interstitial pneumonitis OMIM:614878
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Sinusitis, Myocarditis, Myositis, Osteomyelit... ORPHA:2552
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Brain atrophy, Aspiration pneumonia, Re... ORPHA:314655
Alpha-Mannosidosis, Adult Form
Pneumonia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Optic dis... ORPHA:309288
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia, Cerebral atrophy OMIM:230900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Bronchiectasis, Recurrent pneumonia OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Lymp... ORPHA:911
Cryptococcosis
Peritonitis, Prostatitis, Abnormal cranial nerve morphology, Dyspnea, Respiratory distress, Pleur... ORPHA:1546
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic atrophic gastritis, Eczema,... OMIM:616100
Chops Syndrome
Short nose, Laryngomalacia, Chronic lung disease, Aspiration pneumonia, Tracheal stenosis, Optic ... OMIM:616368
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Abnormal pulmonary interstitial ... ORPHA:97287
Orofaciodigital Syndrome Ix
Retinal coloboma, Brain atrophy, Hypoplasia of the epiglottis, Broad nasal tip, Recurrent aspirat... OMIM:258865
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Absent brainstem auditory responses, Aspiration pneumonia, Optic atrophy, C... ORPHA:52368
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pne... ORPHA:420741
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Facial palsy, Respiratory failure, Facial dipl... ORPHA:98905
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Me... ORPHA:37042
Tenorio Syndrome
Apnea, Pneumonia, Stomatitis, Cerebral cortical atrophy, Keratoconjunctivitis sicca, Anteverted n... OMIM:616260
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Cerebellar atrophy, Apneic episodes in infancy, Asp... ORPHA:35069
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Cough, Pneumonia, Recur... ORPHA:276
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pne... OMIM:158310
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Desquamative interstitial... OMIM:615952
Zygomycosis
Peritonitis, Pericarditis, Cough, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, Epista... ORPHA:73263
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Q Fever
Endocarditis, Pericarditis, Respiratory distress, Cholecystitis, Cough, Pleural effusion, Maculop... ORPHA:781
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Pneumonia, Sinusitis, Recurrent lower respiratory t... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent lower respiratory tract infections, Recurrent otitis media, Pneumonia, Recurrent upper ... OMIM:600802
Coccidioidomycosis
Peritonitis, Skin rash, Folliculitis, Pericarditis, Respiratory distress, Parenchymal consolidati... ORPHA:228123
Brucellosis
Pericarditis, Pneumonia, Abnormality of the peripheral nervous system, Anterior uveitis, Myocardi... ORPHA:1304
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neo... ORPHA:247691
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Good Syndrome
Dyspnea, Bronchiectasis, Cough, Sinusitis, Recurrent skin infections, Recurrent respiratory infec... ORPHA:169105
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia ORPHA:39041
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Pneumonia, Epi... OMIM:600903
Immunodeficiency 36
Recurrent respiratory infections, Bronchiectasis OMIM:616005
Hennekam-Beemer Syndrome
Long nose, Pneumonia, Respiratory insufficiency, Wide nasal bridge, Optic atrophy, Wide nose ORPHA:2135
Gm1 Gangliosidosis
Retinopathy of prematurity, Aspiration pneumonia, Abnormal retinal vascular morphology, Encephali... ORPHA:354
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Cerebral atrophy ORPHA:79243
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Spondyloenchondrodysplasia With Immune Dysregulation
Restrictive ventilatory defect, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis... OMIM:607944
Leukocyte Adhesion Deficiency
Peritonitis, Severe periodontitis, Osteomyelitis, Respiratory tract infection, Bronchiectasis, Ch... ORPHA:2968
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Bloom Syndrome
Skin rash, Respiratory tract infection, Chronic pulmonary obstruction, Uveitis, Pneumonia, Cheili... ORPHA:125
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia, Laryngeal stridor ORPHA:53351
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Optic disc pallor OMIM:619167
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Respiratory distress, Pyelonephritis, Arteritis... ORPHA:533
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent oti... ORPHA:293978
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chro... OMIM:219700
Shigellosis
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Myocarditis, ... ORPHA:810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Inflammatory abnormality of the skin ORPHA:26793
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia OMIM:226300
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis, Arthritis ORPHA:1855
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Abnormal respiratory system morphology, Tracheobronchial leiomyomatosis, Cough, Keratiti... ORPHA:1018
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Neurodegeneration, Choanal atresia, Si... OMIM:251260
Mucopolysaccharidosis Type 3
Respiratory tract infection, Pigmentary retinopathy, Chronic otitis media, Retinal degeneration, ... ORPHA:581
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia ORPHA:1136
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Wide nasal bridge, Arthritis, Neonatal respiratory distress, Optic nerv... ORPHA:221139
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Pneumonia, Subcortical cerebral atrophy, Cerebral cortical atr... ORPHA:309282
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Marshall-Smith Syndrome
Apnea, Obstructive sleep apnea, Short nose, Cerebral atrophy, Choanal atresia, Laryngomalacia, Pu... OMIM:602535
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Pulmonary fibrosis, Cough, Chronic mucocutaneous candidiasis, Recurrent asp... ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Pneumonia, Sinusitis OMIM:102700
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pustule, Pneumonia, Facial palsy, Encephalitis, Sinusitis ORPHA:68
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Retinal dystrophy, Chronic lung disease, Abnormality of the optic disc, Tachypnea, Recurre... ORPHA:397715
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Broad nasal tip, Diffuse cerebral atrophy, Cherry red spot of the macula, D... ORPHA:79255
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Pleuritis, Dyspnea, Pneumonia, Septic arthritis, Pleu... ORPHA:544482
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Tay-Sachs Disease
Global brain atrophy, Cerebellar atrophy, Aspiration pneumonia, Optic atrophy, Cherry red spot of... ORPHA:845
Cornelia De Lange Syndrome 1
Choanal atresia, Pneumonia, Optic atrophy, Anteverted nares, Otitis media, Depressed nasal bridge OMIM:122470
Igg4-Related Kidney Disease
Prostatitis, Abnormal lung morphology, Pleuritis, Pericarditis, Arteritis, Interstitial pneumonit... ORPHA:449395
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Respiratory distr... ORPHA:95455
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Pyoderma, Pneumonia, Laryn... ORPHA:79404
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Sinusitis, Eczema, Osteomyelitis ORPHA:811
Insulin-Resistance Syndrome Type B
Skin rash, Nephritis, Osteoarthritis, Pneumonia ORPHA:2298
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Respiratory distress, ... ORPHA:707
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Anteverted nares ORPHA:73230
Dyskeratosis Congenita, Autosomal Dominant 1
Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Coffin-Siris Syndrome
Short nose, Recurrent upper respiratory tract infections, Aspiration pneumonia, Broad nasal tip, ... ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Short nose, Tracheomalacia, Laryngomalacia, Chronic lung disease, Aspiration pneumon... ORPHA:444077
Neuroleptic Malignant Syndrome
Pulmonary embolism, Aspiration pneumonia, Abnormal autonomic nervous system physiology ORPHA:94093
Niemann-Pick Disease Type C
Abnormal lung morphology, Frontal cortical atrophy, Cerebral atrophy, Respiratory insufficiency, ... ORPHA:646
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia, Anteverted nares, Short nose, Wide nasal bridge OMIM:247200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Otitis media, Asthma, Retinopathy, Obstructive sleep apnea, Recurrent respiratory infe... ORPHA:353281
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Peripheral pulmonary artery stenosis, Cerebellar atrophy, Pulmonary arterial hyperten... ORPHA:280633
Semilobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93924
Opitz Gbbb Syndrome
Laryngeal cleft, Tracheomalacia, Wide nasal bridge, Recurrent aspiration pneumonia, Stridor, Ante... ORPHA:2745
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Laryngeal cartilage malformation, Pneumonia, Recurrent respiratory infections, Otitis media, Asth... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Laryngeal cartilage malformation, Pneumonia, Recurrent respiratory infections, Otitis media, Asth... ORPHA:353284
Doors Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge, Aspiration pneumonia, Broad nasal tip, Opt... ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia, Giant somatosensory evoked potentials, Brain atrophy ORPHA:501
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Obstr... ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Fasciitis, Abnormality of... ORPHA:642
Fontaine Progeroid Syndrome
Short nose, Respiratory insufficiency, Pulmonary hypoplasia, Pulmonary arterial hypertension, Rec... OMIM:612289
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Recurrent otitis media, Wide nasal bridge OMIM:147920
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Pericarditis, Respiratory distress, Aspiration pneumonia... 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.

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MGI Allele Allele Type Produced
Crocctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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