Not currently registered for phenotyping at IMPC

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

Gene Summary

heterogeneous nuclear ribonucleoprotein A3
Hnrpa3,  2610510D13Rik,  2610209F03Rik,  2410013L13Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Hnrnpa3 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 Hnrnpa3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis, Agenesis of corpus callosum OMIM:619466
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi... ORPHA:79127
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology,... OMIM:612387
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons, Pulmonary hypoplasia OMIM:253310
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Agenesis of corpus callosum, Prolonged... OMIM:227646
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Neonatal death, Stillbirth, Multinucleated neuron, Pulmonary hypoplasia OMIM:236500
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Death in infancy, Pulmonary hypoplasia OMIM:241800
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... OMIM:600901
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... OMIM:227650
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in DNA, Chro... OMIM:227645
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... ORPHA:2257
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Recurrent bronchopulmonary infections, Defective DNA repair after ultraviolet radiation damage, P... ORPHA:33364
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Thanatophoric Dysplasia
Hydrocephalus, Pulmonary hypoplasia ORPHA:2655
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypereosinophilia, Pleural effusion, Hypersensitivity pneumonitis, Hypoxemia ORPHA:2902
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Pulmonary hypoplasia OMIM:187600
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia OMIM:224410
Meconium Aspiration Syndrome
Pneumothorax, Hypoxemia, Atelectasis, Aspiration pneumonia ORPHA:70588
Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exertion, Hypoxemia, Recurr... OMIM:610978
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Emphysema ORPHA:436
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus, Pulmonary hypoplasia OMIM:314390
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Pulmonary hypoplasia ORPHA:250999
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronc... OMIM:244400
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Odontochondrodysplasia 1
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Pulmonary hypoplasia ORPHA:86822
Tetrasomy 5P
Hydrocephalus, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Primary Ciliary Dyskinesia
Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov... ORPHA:244
Xfe Progeroid Syndrome
Death in adolescence, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Pulmonary hypoplasia ORPHA:3035
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Pulmonary hypoplasia ORPHA:2437
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infections, Decreased eosi... OMIM:619632
Marden-Walker Syndrome
Pulmonary hypoplasia, Agenesis of corpus callosum OMIM:248700
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, Neonatal death OMIM:300219
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Holoprosencephaly, Pulmonary hypoplasia OMIM:619879
Microcephaly-Micromelia Syndrome
Neonatal death, Aqueductal stenosis, Pulmonary hypoplasia OMIM:251230
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:615415
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Meckel Syndrome, Type 6
Occipital encephalocele, Bilobed right lung, Hydrocephalus, Anencephaly, Pulmonary hypoplasia OMIM:612284
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Anencephaly, Encephalocele, Agenesis of corpus callosum OMIM:619148
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia OMIM:616897
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Pulmonary hypoplasia OMIM:612530
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Short-Rib Thoracic Dysplasia 12
Atelectasis, Neonatal death, Hydrocephalus, Holoprosencephaly, Anencephaly, Pulmonary hypoplasia OMIM:269860
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia, Lateral ventricle dilatation, Agenesis of corpus ... ORPHA:1692
Genitopatellar Syndrome
Pulmonary hypoplasia, Agenesis of corpus callosum ORPHA:85201
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Meacham Syndrome
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... OMIM:608978
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Hydrocephalus,... ORPHA:538
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Hydrocephalus, Death in infancy, Pulmonary hypoplasia OMIM:100800
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... OMIM:601186
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Pulmonary hypoplasia ORPHA:1335
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Lateral ventricle dilatation, Atelectasis, Colpocephaly, Hydrocephalus, Pulmonar... OMIM:620371
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia ORPHA:96179
Distal Triplication 15Q
Hydrocephalus, Pulmonary hypoplasia ORPHA:314588
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... OMIM:613177
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Raine Syndrome
Neonatal death, Hydrocephalus, Death in infancy, Pulmonary hypoplasia OMIM:259775
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ... ORPHA:185
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Fryns Syndrome
Pulmonary hypoplasia, Agenesis of corpus callosum ORPHA:2059
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Pulmonary hypoplasia OMIM:313850
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Pagod Syndrome
Pulmonary artery hypoplasia, Encephalocele, Death in infancy, Abnormality of the pulmonary artery... ORPHA:991
Gaucher Disease, Perinatal Lethal
Neonatal death, Pulmonary hypoplasia OMIM:608013
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Pulmonary hypoplasia OMIM:608022
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida, Pulmonary hypoplasia ORPHA:3412
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele, Pulmonary hypoplasia OMIM:616546
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Pulmonary hypoplasia OMIM:616300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Pulmonary hypoplasia ORPHA:2990
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele, Pulmonary hypoplasia ORPHA:90652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Pulmonary hypoplasia OMIM:263520
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Pulmonary hypoplasia OMIM:214100
Sarcoidosis, Susceptibility To, 1
Emphysema, Hypoxemia, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fib... OMIM:181000
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Bro... ORPHA:980
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Neu-Laxova Syndrome
Spina bifida, Pulmonary hypoplasia ORPHA:2671
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Fryns Syndrome
Pulmonary hypoplasia, Chylothorax, Stillbirth, Agenesis of corpus callosum OMIM:229850
Stuve-Wiedemann Syndrome 1
Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Neu-Laxova Syndrome 1
Hydranencephaly, Neonatal death, Agenesis of corpus callosum, Spina bifida, Stillbirth, Pulmonary... OMIM:256520
Greenberg Dysplasia
Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:215140
Congenital Myopathy 22B, Severe Fetal
Pleural effusion, Pulmonary hypoplasia OMIM:620369
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Pulmonary hypoplasia OMIM:200995
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Death in infancy, Colpocephaly, Hydrocephalus, Partial agenesis of the co... OMIM:270400
Esophageal Atresia
Cyanosis, Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia ORPHA:1199
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:208500
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d... OMIM:614437
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Neonatal Marfan Syndrome
Emphysema, Hypoxemia ORPHA:284979
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia ORPHA:2886
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia OMIM:308050
Meckel Syndrome, Type 1
Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Pulmonary hypop... OMIM:249000
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Pulmonary hypoplasia OMIM:615636
Meier-Gorlin Syndrome 1
Emphysema, Death in infancy OMIM:224690
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Fontaine Progeroid Syndrome
Death in infancy, Neonatal death, Pneumothorax, Hydrocephalus, Recurrent aspiration pneumonia, Pu... OMIM:612289
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Pulmonary hypoplasia OMIM:208150
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia OMIM:273395
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Holoprosencephaly, Pulmonary hypoplasia ORPHA:818
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Eosinophilia, Pneumothorax,... ORPHA:797
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia ORPHA:536471
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Meningocele ORPHA:558
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Ogden Syndrome
Pulmonary edema, Pulmonary artery stenosis, Peripheral pulmonary artery stenosis, Pulmonary hypop... OMIM:300855
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Unilateral lung agenesis, Emphysema, Lateral ventricle dilatation ORPHA:500150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Fabry Disease
Emphysema ORPHA:324
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Encephalocele, Pulmonary hypoplasia OMIM:219000
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Schinzel-Giedion Syndrome
Recurrent pneumonia, Neural tube defect, Pulmonary hypoplasia ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary artery stenosis, Spinal dysraphism, Miscarriage, Pulmonary hypoplasia ORPHA:96334
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia OMIM:620025
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Pulmonary hypoplasia ORPHA:666
Restrictive Dermopathy 1
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:275210
Genitopatellar Syndrome
Pulmonary hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Fraser Syndrome
Abnormal lung lobation, Myelomeningocele, Encephalocele, Death in infancy, Pulmonary hypoplasia ORPHA:2052
Pulmonary hypoplasia ORPHA:86309
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Distal Deletion 15Q
Pulmonary hypoplasia ORPHA:1596
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:731
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Tetrasomy 9P
Hydrocephalus, Pulmonary hypoplasia ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Agenesis of corpus callosum ORPHA:93271
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia ORPHA:83617
Cardiac-Urogenital Syndrome
Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard... ORPHA:99125
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Restrictive Dermopathy
Pulmonary hypoplasia ORPHA:1662
Viss Syndrome
Emphysema, Pulmonary artery aneurysm, Pneumothorax, Hypereosinophilia OMIM:619472
Craniofacial Microsomia 1
Pulmonary hypoplasia, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Neoplasm of the lung ORPHA:744
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Pallister-Killian Syndrome
Stillbirth, Pulmonary hypoplasia OMIM:601803
Sotos Syndrome
Pulmonary bleb, Small cell lung carcinoma ORPHA:821
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800


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 Hnrnpa3

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 Hnrnpa3.

No publications found that use IMPC mice or data for Hnrnpa3.

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
Hnrnpa3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hnrnpa3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hnrnpa3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hnrnpa3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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