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Gene: Ezr MGI:98931

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Gene Summary

Name:
ezrin
Synonyms:
cytovillin,  p81,  Vil2,  ezrin

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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 Ezrtm2a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal retina morphology Ezrtm2a(EUCOMM)Wtsi HET   Early adult 7.71×10-06

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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

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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Legacy Phenotype Associated Images
Ezrtm2a(EUCOMM)Wtsi
HET, Female, WTSI
Ezrtm2a(EUCOMM)Wtsi
HET, Female, WTSI
Ezrtm2a(EUCOMM)Wtsi
HET, Male, WTSI
Ezrtm2a(EUCOMM)Wtsi
HET, Male, WTSI
Ezrtm2a(EUCOMM)Wtsi
HET, Male, WTSI

View all 77 images

Ezrtm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Ezr 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 Ezr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone dystrophy, Cone/cone-rod dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Growth delay, Protracted diarrhea OMIM:251850
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Villous atrophy OMIM:615863
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Diarrhea 12, With Microvillus Atrophy
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... OMIM:619445
Lactose Intolerance, Adult Type
Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... ORPHA:103907
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes,... OMIM:246700
Bile Acid Malabsorption, Primary, 1
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat ma... OMIM:613291
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Villous atrophy, Abnormal small intestine morpho... ORPHA:95427
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Coloboma Of Macula
Macular coloboma OMIM:120300
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Intrauterine growth retardation, Villous atrophy, C... OMIM:614602
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr... ORPHA:1201
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Failure to thrive, Villous atrophy, Enterocolitis, Episodic vomiting, Short s... OMIM:616050
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, Steatorrhea OMIM:602579
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea OMIM:600955
Immunodeficiency 85 And Autoimmunity
Vomiting, Failure to thrive in infancy, Villous atrophy, Chronic diarrhea, Growth delay OMIM:619510
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Gastroesophageal reflux, Stomach cancer, Abnorma... ORPHA:2494
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate OMIM:601110
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormal small intestinal villus morphology ORPHA:2290
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Cachexia, Abnor... ORPHA:1876
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Villous atrophy, Weight loss, Chronic diarrhea ORPHA:398063
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight... OMIM:619377
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Failure t... OMIM:256500
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy, Failure to thrive, Protracted diarrhea OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Failure to thrive, Ileus OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Coli... OMIM:614700
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Villous atrophy, Weight loss, Delayed puberty, Short statur... OMIM:614162
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Failure to thrive OMIM:608776
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... OMIM:615925
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Truncal obes... OMIM:618160
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Postnatal growth retardation, Delayed puberty, Celiac disease OMIM:618985
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Villous atrophy, Chronic diarrhea OMIM:606367
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Weight loss, Protein-losing enteropathy ORPHA:103910
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Intrauterine growth retardation, Villous atrophy, Hypoplas... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ia
Vomiting, Diarrhea, Failure to thrive, Villous atrophy, Steatorrhea OMIM:212065
Pearson Marrow-Pancreas Syndrome
Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villous atrophy, Pancreatic fibro... OMIM:557000
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Weight loss, Abnormality of the gas... ORPHA:2070
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Intrauterine growth retardation, Esophageal stenosis, Postnatal growth retardation OMIM:615190
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Small for gestational age, Secretory diarrhea, Intrauterine growth retardatio... OMIM:619573
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Growth delay ORPHA:100025
Trichohepatoenteric Syndrome 1
Bifid uvula, Intractable diarrhea, Failure to thrive, Intrauterine growth retardation, Villous at... OMIM:222470
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Small for gestational age ORPHA:567983
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Intussusception
Intussusception OMIM:147710
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Villous atrophy, Abnormal intestine morphology, Enterocolitis, Delayed puberty, Short s... ORPHA:391487
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Vomiting, Anoperineal fistula, Villous atrophy, Crohn's disease, ... OMIM:619381
Alg9-Cdg
Bifid uvula, Rhizomelia, Vomiting, Diarrhea, Gastroesophageal reflux, Villous atrophy, Hypoplasti... ORPHA:79328
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... OMIM:155310
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Failure to thrive in ... ORPHA:904

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 Ezr

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 Ezr.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ezrtm2a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ezrtm2a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Ezrtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ezrtm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ezrtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ezrtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ezrtm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ezrtm4a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ezrtm4e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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