Gene Summary

cytovillin,  p81,  Vil2,  ezrin

IMPC Data Collections

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.

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.


XRay Images Forepaw

13 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

15 Images


XRay Images Skull Lateral Orientation

12 Images


XRay Images Skull Dorso Ventral Orientation

13 Images

Legacy Phenotype Associated Images

View all 77 images

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
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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
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
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Crypt hyperplasia, Villous atrophy, Intractable diarrhea, Failure to t... OMIM:613217
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea, Growth delay OMIM:251850
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Failure to thrive, Diarrhea, Vomiting OMIM:615863
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal... ORPHA:103907
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Microvillus inclusions, Vomiting, S... OMIM:619445
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea, Failure to thrive, Growth delay, Increased fecal bile acid, Chron... OMIM:613291
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Secondary Short Bowel Syndrome
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... ORPHA:95427
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Coloboma Of Macula
Macular coloboma OMIM:120300
Congenital Tufting Enteropathy
Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large int... ORPHA:92050
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Trichohepatoenteric Syndrome 2
Small for gestational age, Villous atrophy, Colitis, Intrauterine growth retardation, Failure to ... OMIM:614602
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Lactase Deficiency, Congenital
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intrauterine growth retardation, Short stature, Failure t... ORPHA:1201
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis, Failure to thrive OMIM:614328
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy, Diarrhea, Obesity OMIM:600955
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Bl... OMIM:619079
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Failure to thrive, Enterocolitis, Episodic vomiting, Secretory di... OMIM:616050
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... 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
Vitreous floaters, Retinal exudate, Retinal detachment, Tractional retinal detachment, Optic atro... ORPHA:209943
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... OMIM:616188
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Projectile ... OMIM:615237
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Villous atrophy, Protein-losing enteropathy, Failure to thrive, Diarrhea, Vomiting OMIM:602579
Ménétrier Disease
Gastroesophageal reflux, Multiple gastric polyps, Helicobacter pylori infection, Stomach cancer, ... ORPHA:2494
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Villous atrophy, Growth delay, Vomiting, Chronic diarrhea OMIM:619510
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy, Failure to thrive, Diarrhea, Vomiting OMIM:601110
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology ORPHA:2290
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Malabsorption, Cachexia, Gastroparesis, Spontaneous es... ORPHA:1876
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Refractory Celiac Disease
Malabsorption, Villous atrophy, Protein-losing enteropathy, Jejunitis, Chronic diarrhea, Weight loss ORPHA:398063
Nk-Cell Enteropathy
Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Hematochezia, Stercoral ulcer, Colonic ... ORPHA:263665
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea, Failure to thrive OMIM:209920
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Increased intestinal transit time, Villous atrophy, Failure to thrive,... OMIM:619377
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Intestinal atresia, Failure to thrive, Villous... OMIM:256500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Chronic diarrhea, Villous atrophy OMIM:304790
Pancreatic Colipase Deficiency
Steatorrhea, Growth delay, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Exocrine pancreat... ORPHA:309108
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Colitis, Failure to thrive, Atrophic gastri... OMIM:614700
Immunodeficiency 31C
Delayed puberty, Villous atrophy, Gastrointestinal eosinophilia, Protein-losing enteropathy, Shor... OMIM:614162
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Delayed puberty, Postnatal growth retardation, Short stature OMIM:618985
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Short ... OMIM:618160
Exudative Vitreoretinopathy 6
Retinal exudate, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal... OMIM:616468
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... ORPHA:2070
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Malabsorption, Steatorrhea, Villous atrophy, Failure to thrive, Pancre... OMIM:557000
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Growth delay ORPHA:100025
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Villous atrophy, Chronic diarrhea OMIM:606367
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Syndromic Diarrhea
Hypoplasia of the thymus, Small for gestational age, Villous atrophy, Colitis, Intrauterine growt... ORPHA:84064
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Villous atrophy, Failure to thrive, Diarrhea, Vomiting OMIM:212065
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, ... OMIM:615710
Immunodeficiency 87 And Autoimmunity
Small for gestational age, Increased fecal calprotectin level, Villous atrophy, Intrauterine grow... OMIM:619573
Trichohepatoenteric Syndrome 1
Small for gestational age, Bifid uvula, Villous atrophy, Intrauterine growth retardation, Short s... OMIM:222470
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Small for gestational age, Villous atrophy, Biliary hyperplasia ORPHA:567983
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormal intestine morphology, Villous atrophy, Short stature, Growth delay, Dia... ORPHA:391487
Intussusception OMIM:147710
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anoperineal fistula, Colitis, Intractable diarrhea, Gastritis, Diarrhea, Crohn's... OMIM:619381
Hypoplasia of the ovary, Gastroesophageal reflux, Bifid uvula, Hypoplastic nipples, Rhizomelia, V... ORPHA:79328
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Reynolds Syndrome
Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Xerostomia ORPHA:779
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Esophageal ulceration, Duodenal ulcer OMIM:618372
Williams Syndrome
Macroglossia, Peptic ulcer, Gastroesophageal reflux, Cryptorchidism, Malabsorption, Polycystic ov... ORPHA:904


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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