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Gene: Lhx4 MGI:101776

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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:
LIM homeobox protein 4
Synonyms:
Gsh-4,  Gsh4,  A330062J17Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Lhx4 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.

The table below shows human diseases associated to Lhx4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased thyroid-stimulating hormone level, Decreased circulating T... ORPHA:226307
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700

The table below shows human diseases predicted to be associated to Lhx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... OMIM:610978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Bronchiolitis Obliterans
Pneumonia, Bronchiectasis, Ground-glass opacification, Respiratory tract infection, Bronchiolitis... ORPHA:1303
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Ground-glass opac... ORPHA:2032
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Diabetic ... ORPHA:70578
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
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Transient pulmonary infiltrates, Pneumothorax, Maternal diabet... ORPHA:70588
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... OMIM:612387
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Increased circulat... ORPHA:36238
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Parenchymal consolidation, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Severe Acute Respiratory Syndrome
Hypoxemia, Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Placental Insufficiency
Abnormal lung morphology, Hypoxemia, Miscarriage ORPHA:439167
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Pneumocystosis
Combined cystic and ground-glass pattern on pulmonary HRCT, Interstitial pneumonitis, Pleural eff... ORPHA:723
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Hypoxemia ORPHA:1302
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity ORPHA:330012
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Bilateral cryptorchidism, Death in infancy, Neonatal death, Unilateral cryptorchidism OMIM:300219
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Acute infectious pneumonia ORPHA:264675
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary infiltrates, Irregular septal thickening on pulmonary HRCT,... ORPHA:90060
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased circula... ORPHA:90695
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Subpleural interstitial thickening, G... ORPHA:79128
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Panbronchiolitis, Diffuse
Hypoxemia, Bronchiectasis OMIM:604809
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... ORPHA:60025
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... ORPHA:2257
Avian Influenza
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Hyp... ORPHA:454836
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration ORPHA:122
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis ORPHA:91359
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Tempi Syndrome
Abnormality of the pulmonary vasculature, Hypoxemia, Transudative pleural effusion ORPHA:284227
Primary Ciliary Dyskinesia
Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov... ORPHA:244
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Hypothyroidism, Abnormal pulmonary interstitial morpholo... OMIM:615486
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... ORPHA:300373
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... OMIM:613177
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Pleural effusion, Hypoxemia ORPHA:542323
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphysema, Hypoxemia, Pleural effus... OMIM:181000
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Interstitial pneumonitis, Decreased serum insulin-like growth factor 1, Delayed p... ORPHA:77293
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism, Hypercapnia ORPHA:505395
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Hypoxemia, Pleural empyema ORPHA:2038
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Farber Disease
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... ORPHA:333
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... ORPHA:293978
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hyperechogenic pancreas, Hypothyroidism, Delayed puberty, Aplasia/Hypoplasia of the pancreas, Hyp... ORPHA:456312
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Hypercapnia, Abnormal thalamic MRI signal intensity ORPHA:79138
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Short-Rib Thoracic Dysplasia 12
Neonatal death, Hypoplastic nipples, Atelectasis, Pulmonary hypoplasia OMIM:269860
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia ORPHA:75389
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Abnormal pulmonary thoracic imaging f... ORPHA:980
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Hypoxemia OMIM:308230
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Atelectasis, Cryptorchidism, Pulmonary artery atresia, Pulmonary hypoplasia OMIM:620371
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Neonatal Marfan Syndrome
Emphysema, Decreased testicular size, Hypoxemia ORPHA:284979
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypoxemia, Cryptorchidism ORPHA:2282
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Achondroplasia
Hypoxemia ORPHA:15
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis OMIM:618278
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ate... ORPHA:534
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland OMIM:620558
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Hypoxemia, Pancreatic aplasia ORPHA:556955
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Sickle Cell Disease
Cholelithiasis, Hypoxemia OMIM:603903
Congenital Myopathy 13
Cryptorchidism, Hypoxemia, Hypercapnia OMIM:255995
Rh Deficiency Syndrome
Hypoxemia, Miscarriage ORPHA:71275
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Pa... ORPHA:64744
Joubert Syndrome 38
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... OMIM:619476
Digeorge Syndrome
Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Recurrent sinusitis, Ov... OMIM:188400
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypoxemia, Hypercapnia, Aspiration pneumonia ORPHA:2020
22Q11.2 Deletion Syndrome
Cholelithiasis, Atelectasis, Abnormal lung lobation, Cryptorchidism, Hypoplasia of the thymus, Hy... ORPHA:567
Sickle Cell Anemia
Cholelithiasis, Pigment gallstones, Hypoxemia ORPHA:232
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia OMIM:209880
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Female hypogonadism, Male hypogonadism, Adrenocorticotropin ... ORPHA:91347
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Chand Syndrome
Atelectasis ORPHA:1401
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased thyroid-stimulating hormone level, Decreased circulating T... ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia OMIM:618222
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Malignant Hyperthermia Of Anesthesia
Hypercapnia ORPHA:423
Relapsing Polychondritis
Atelectasis ORPHA:728
Oculopharyngodistal Myopathy 1
Hypercapnia OMIM:164310
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Hemothorax, Cyanosis, Pulmonary arteriovenous ... OMIM:187300
Acute Liver Failure
Hypocapnia, Adrenal insufficiency ORPHA:90062
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Eisenmenger Syndrome
Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Chronic Thromboembolic Pulmonary Hypertension
Hypocapnia ORPHA:70591
Exercise-Induced Malignant Hyperthermia
Hypocapnia ORPHA:466650
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Abnormal lun... ORPHA:449563
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700

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 Lhx4

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 Lhx4.

No publications found that use IMPC mice or data for Lhx4.

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MGI Allele Allele Type Produced
Lhx4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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