Gene Summary

Name:
chymotrypsin-like elastase family, member 1
Synonyms:
Ela1,  1810009A17Rik,  1810062B19Rik,  Ela-1,  PC-TsF

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of right eye

16 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Human diseases caused by Cela1 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 Cela1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Hypophosphatasia
Emphysema ORPHA:436
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... OMIM:613177
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... OMIM:181000
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... ORPHA:797
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Fabry Disease
Emphysema ORPHA:324
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation ORPHA:558
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis ORPHA:500150
Viss Syndrome
Emphysema, Pulmonary artery aneurysm, Pneumothorax OMIM:619472

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 Cela1

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 Cela1.

No publications found that use IMPC mice or data for Cela1.

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
Cela1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cela1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cela1em1(IMPC)Bay Exon Deletion Mice

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