Gene Summary

Name:
mitochondrial elongation factor 1
Synonyms:
Smcr7l

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal adrenal gland morphology Mief1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Mief1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Mief1em1(IMPC)Mbp HOM Early adult 0.00

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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 Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Mief1 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 Mief1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 14
OMIM:620550

The table below shows human diseases predicted to be associated to Mief1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Ventricular hypertrophy, Adrenal hyperplasia, Hyperaldosteronism, Ven... ORPHA:369929
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Adrenal gland agenesis OMIM:611812
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Diabetes mellitus, ... OMIM:235200
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Timothy Syndrome
Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr... ORPHA:189427
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Hypothyroidism, Splenomegaly, Cardiomegaly, Dia... ORPHA:465508
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Fucosidosis
Cardiomegaly, Hepatomegaly, Hypothyroidism ORPHA:349
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Mogs-Cdg
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hepatosplenomegaly, L... ORPHA:79330
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Cholelithiasis OMIM:603903
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Truncus Arteriosus
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... ORPHA:3384
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Pancreatic hypoplasia, Hyper... OMIM:602782
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Ventricular septal defect, Complete atrioventricular canal defect OMIM:236680
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Incr... ORPHA:96253
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hepatomegaly, Decreased serum insulin-like growth factor 1, Cardiomegaly, Dilate... OMIM:614921
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Adrenocortic... OMIM:130650
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo... ORPHA:99889
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney OMIM:608836
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Doors Syndrome
Double outlet right ventricle, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricula... OMIM:300967
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Neonat... ORPHA:96191
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... ORPHA:581
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy... ORPHA:116
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab... OMIM:300855
Bohring-Opitz Syndrome
Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Histiocytoid Cardiomyopathy
Cardiomegaly, Polycystic ovaries, Ventricular septal defect, Hepatomegaly ORPHA:137675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Hypothyroidism ORPHA:14
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Cryptorchidism OMIM:620371
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:620376
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hypothyroidism, Hepatosplenomegaly, Cardiomegaly, Diabetes mellitus ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Pancreatic hypoplasia, Abnormal circ... OMIM:619991
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Crypt... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Cryptorchidism, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricu... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Parotitis, Splenome... OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification, Cardiomegaly, Adrenal ca... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Optic Atrophy 14
OMIM:620550

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 Mief1

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 Mief1.

No publications found that use IMPC mice or data for Mief1.

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
Mief1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mief1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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