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Gene: Lztr1 MGI:1914113

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Gene Summary

Name:
leucine-zipper-like transcriptional regulator, 1
Synonyms:
1200003E21Rik,  TCFL2

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Lztr1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Lztr1tm1a(EUCOMM)Wtsi HET Early adult 1.73×10-05
abnormal snout morphology Lztr1tm1a(EUCOMM)Wtsi HET   Early adult 5.59×10-05
abnormal cranium morphology Lztr1tm1a(EUCOMM)Wtsi HET   Early adult 1.40×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Legacy Phenotype Associated Images
Lztr1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 67 images

Lztr1tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Lztr1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
cornea/lens fusion, HET, Female, WTSI
Lztr1tm1a(EUCOMM)Wtsi
corneal vascularization, HET, Male, WTSI
Lztr1tm1a(EUCOMM)Wtsi
corneal opacity, HET, Female, WTSI
Lztr1tm1a(EUCOMM)Wtsi
abnormal pupil morphology, HET, Female, WTSI
Lztr1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Lztr1 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 Lztr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noonan Syndrome 10
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral ... OMIM:616564
Noonan Syndrome 2
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Micrognathia, Cardiomyopathy, ... OMIM:605275
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Aplasia/Hypoplasia of the abdomi... ORPHA:648
Full Schwannomatosis
ORPHA:93921
Schwannomatosis 2
OMIM:615670

The table below shows human diseases predicted to be associated to Lztr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Achard Syndrome
Broad skull, Brachycephaly, Micrognathia OMIM:100700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Brachy... OMIM:277600
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Choanal atresia, Underdeveloped nasal alae, Microcephaly, Broad skull,... ORPHA:163979
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, Congestive heart fa... OMIM:608328
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... OMIM:600373
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Ethanolaminosis
Cardiomegaly OMIM:227150
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macrocephaly, Cardiomegaly OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Wide anterior fontanel... OMIM:619064
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Coccidioidomycosis
Pericarditis, Broad skull, Vasculitis, Vasospasm, Cerebral ischemia ORPHA:228123
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Mulibrey Nanism
Hepatomegaly, Wide nose, Frontal bossing, Depressed nasal bridge, Cardiomegaly, Congestive heart ... OMIM:253250
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Prominent nose, Cardiomegaly, Skelet... OMIM:300280
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Infantile Sialic Acid Storage Disease
Hepatomegaly, Anteverted nares, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to ... OMIM:269920
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Seconda... OMIM:618652
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent... ORPHA:324410
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, M... ORPHA:42
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... OMIM:614702
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Frontal bossing, Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, ... OMIM:613320
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Congenital Toxoplasmosis
Hepatomegaly, Microcephaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cantu Syndrome
Bicuspid aortic valve, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pericardial effusi... OMIM:239850
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Anteverted nares, Ventricular septal defect, Small for gestational age, Micrognathia, Cardiomegal... OMIM:616897
Timothy Syndrome
Prolonged QT interval, Depressed nasal bridge, Ventricular septal defect, Cardiomegaly, Ventricul... OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Anosmia, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Microcephaly, ... OMIM:201475
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly OMIM:613576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... ORPHA:99931
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Depressed nasal bridge, Bicuspid aorti... ORPHA:363705
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Microcephaly, Cardiomegaly, Brachycephaly, Macrocephaly OMIM:618798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Thickened calvaria, Frontal bossing, Relative macrocephaly, Ventricular sept... OMIM:300967
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Wide nose, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomeg... ORPHA:2463
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Microcephaly, Cardiomegaly ORPHA:391428
Cantú Syndrome
Abnormal heart valve morphology, Anteverted nares, Cardiomegaly, Wide nasal bridge, Macrocephaly,... ORPHA:1517
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiomegaly, Splenomegaly,... OMIM:608013
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Microcephaly, Bulbous nose, Dilated cardiomyopathy, Increased muscle ... OMIM:608836
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Trigonocephaly, Micrognathia, Cardiomegaly, Microcephal... ORPHA:97297
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture OMIM:118650
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, ... ORPHA:158687
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Craniosynostosis, M... OMIM:252500
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Micrognathia, Cardiom... OMIM:614921
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Brachycephaly, Failure to thrive ORPHA:349
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Anteverted nares, Ventricular septal defect, Camptod... OMIM:602782
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Frontal bossing, Bicuspid aortic valve, Depressed nasal bridge, Craniosynostos... OMIM:245600
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted... ORPHA:93357
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Ogden Syndrome
Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial septal defect, Ventricular tac... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Macroglossi... OMIM:617022
Mogs-Cdg
Hepatomegaly, Wide nose, Left ventricular hypertrophy, Cardiomegaly, Hepatosplenomegaly, Prominen... ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Fucosidosis
Hepatomegaly, Wide nose, Frontal bossing, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Fle... OMIM:230000
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly, Flexion contrac... ORPHA:581
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Microcephaly, Long nose, Cardiomegaly, Macroglossia, A... OMIM:618143
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Yunis-Varon Syndrome
Narrow nasal base, Anteverted nares, Ventricular septal defect, Micrognathia, Abnormality of dent... ORPHA:3472
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Hepatomegaly, Diastasis recti, Congenital diaphragmatic hern... ORPHA:116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Recurrent upper respiratory tract inf... ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Depressed nasal bridge, Cardiomega... ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Hypoplasia of the maxilla, Carious teeth, Congestive he... OMIM:182250
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Sickle Cell Disease
Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly OMIM:603903
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Prominent nose, Cardiomegaly, Micrognathia, Prominent oc... ORPHA:96191
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Prominent occiput, Cardiomyo... OMIM:130650
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Microcephaly, Hepatosple... ORPHA:51
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly of finger, Pr... OMIM:256040
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Failure to thrive, Distal lower l... ORPHA:14
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Liver Disease, Severe Congenital
Macrocephaly at birth, Hepatomegaly, Depressed nasal bridge, Left atrial enlargement, Narrow nasa... OMIM:619991
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Cardiomegaly, Atrial septal defect, O... ORPHA:904
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P... ORPHA:51608
Noonan Syndrome 10
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral ... OMIM:616564
Noonan Syndrome 2
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Micrognathia, Cardiomyopathy, ... OMIM:605275
Noonan Syndrome
Hepatomegaly, Abnormal pulmonary valve morphology, Micrognathia, Aplasia/Hypoplasia of the abdomi... ORPHA:648
Schwannomatosis 2
OMIM:615670
Full Schwannomatosis
ORPHA:93921

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 Lztr1

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 Lztr1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL. Cancer discovery (March 2023) Lztr1tm1c(EUCOMM)Wtsi Lztr1tm1a(EUCOMM)Wtsi 36445254
Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation. Cancer discovery (October 2022) Lztr1tm1c(EUCOMM)Wtsi PMC9533010
Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs. eLife (April 2022) Lztr1tm1a(EUCOMM)Wtsi PMC9068208
Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon. Frontiers in cell and developmental biology (June 2021) Lztr1tm1a(EUCOMM)Wtsi PMC8242193
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Lztr1tm1a(EUCOMM)Wtsi PMC7263671
The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking. Circulation research (March 2020) Lztr1tm1c(EUCOMM)Wtsi Lztr1tm1a(EUCOMM)Wtsi PMC8575076
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Lztr1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Lztr1tm1a(EUCOMM)Wtsi PMC6459510
RIT1 oncoproteins escape LZTR1-mediated proteolysis. Science (New York, N.Y.) (March 2019) Lztr1tm1a(EUCOMM)Wtsi 30872527
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. Science (New York, N.Y.) (November 2018) Lztr1tm1a(EUCOMM)Wtsi 30442762

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MGI Allele Allele Type Produced
Lztr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lztr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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