Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
E26 avian leukemia oncogene 2, 3' domain
Synonyms:
Ets-2

IMPC Data Collections

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

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.

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 Ets2 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 Ets2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... ORPHA:79414
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Leopard Syndrome 2
Curly hair OMIM:611554
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Carvajal Syndrome
Woolly hair ORPHA:65282
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Smith-Kingsmore Syndrome
Umbilical hernia, Curly hair OMIM:616638
Noonan Syndrome 6
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair OMIM:613224
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair OMIM:615280
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Curly hair OMIM:611553
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Noonan Syndrome 8
Curly hair OMIM:615355
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Intrauterine growth retardation, Thick eyebrow, Low posterior hairline, Cu... OMIM:617360
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Intrauterine growth retardation, Large placenta, Cu... OMIM:222470
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Progeroid Syndrome, Petty Type
Umbilical hernia, Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Long ... ORPHA:2963
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Curly hair OMIM:610733
Craniofrontonasal Syndrome
Umbilical hernia, Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypop... OMIM:304110
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Oculodentodigital Dysplasia
Fine hair, Umbilical hernia, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Britt... ORPHA:2710
Noonan Syndrome 14
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair OMIM:619745
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair... OMIM:614602
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair OMIM:115150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... OMIM:617506
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair ORPHA:90368
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Umbilical hernia, Synophrys OMIM:252900
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Intrauterine growth retardation, Alopecia, Brittle hair ORPHA:50812
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak ORPHA:1520
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails ORPHA:3447
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Intrauterine growth retardation,... OMIM:300953
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Mild intrauterine growth retardation, Slow-growing hair, Brittle hair OMIM:616943
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:607721
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, High anterior hairline ORPHA:231137
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Brittle hair ORPHA:75389
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Acrogeria
Fine hair ORPHA:2500
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... OMIM:167210
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Intrauterine growth retardation, Abnormal hair quantity ORPHA:1745
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Alopecia, Encephalocele, Fine hair ORPHA:228390
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... ORPHA:444077
Menkes Disease
Intrauterine growth retardation, Alopecia, Sparse hair, Brittle hair OMIM:309400
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Coarse hair, Umbilical hernia, Low anterior hairline ORPHA:2095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hernia ORPHA:3079
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... OMIM:619950
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Netherton Syndrome
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar... ORPHA:634
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Cutis Laxa, Autosomal Recessive, Type Iia
Abnormality of hair texture, Intrauterine growth retardation, Coarse hair, Brittle hair OMIM:219200
Noonan Syndrome 2
Low posterior hairline, Sparse eyebrow, Curly hair OMIM:605275
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Coarse hair ORPHA:1185
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Intrauterine growth retardation, Sparse hair, Fine hair OMIM:616817
Tonne-Kalscheuer Syndrome
Small nail, Fine hair, Concave nail OMIM:300978
Fetal Hydantoin Syndrome
Low posterior hairline, Intrauterine growth retardation, Coarse hair, Hypoplastic fingernail ORPHA:1912
Zttk Syndrome
Broad eyebrow, Sparse eyebrow, Intrauterine growth retardation, Curly hair OMIM:617140
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Coarse hair, Synophrys OMIM:252930
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair OMIM:256500
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Intrauterine growth retardation, Sparse ... ORPHA:217346
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... OMIM:601675
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Intrauterine growth retardation, Tiger tail banding, Brittle hair OMIM:616395
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Costello Syndrome
Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails OMIM:218040
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Intrauterine growth retardation, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Intrauterine growth retardation, Abnormal hair pattern, Coarse hair ORPHA:1786
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Sparse eyebrow, Brittle hair OMIM:618810
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Intrauterine growth retardation, Umbilical hernia ORPHA:79351
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intrauterine growth retardation, Fine hair ORPHA:363686
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Intrauterine growth retardation, Encephalocele, Spar... OMIM:613451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... OMIM:620519
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... OMIM:619503
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Hypoplastic toenails, Deep-set nails, C... ORPHA:3071
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Long eyelashes, Fine hair, Synophrys OMIM:620250
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Trisomy 20P
Highly arched eyebrow, Coarse hair, Umbilical hernia, Thick eyebrow, Low anterior hairline, Low p... ORPHA:261318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Sparse eyebrow, Broad lateral eyebrow, Curly hair ORPHA:500150
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158310
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Revesz Syndrome
Ridged fingernail, Fine hair, Intrauterine growth retardation, Nail dystrophy, Sparse hair, Nail ... OMIM:268130
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Cutis Laxa, Autosomal Recessive, Type Iiib
Intrauterine growth retardation, Sparse hair, Fine hair OMIM:614438
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, ... OMIM:613990
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys OMIM:617303
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... OMIM:305100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Lateral Meningocele Syndrome
Meningocele, Coarse hair, Umbilical hernia OMIM:130720
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Umbilical hernia, Ridged nail, Tiger tail banding, Alopecia of s... ORPHA:33364
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Bcard Syndrome
Nail dysplasia, Intrauterine growth retardation, Coarse hair OMIM:612394
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... ORPHA:1071
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Intrauterine growth retardation, Sparse hair, Thick hair, Coarse hair ORPHA:357074
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple ORPHA:1812
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Brittle hair OMIM:619184
Schimke Immunoosseous Dysplasia
Intrauterine growth retardation, Coarse hair, Fine hair OMIM:242900
Weaver Syndrome
Fine hair, Umbilical hernia, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Koolen-De Vries Syndrome
Abnormality of hair texture, Intrauterine growth retardation, Fair hair OMIM:610443
Ablepharon Macrostomia Syndrome
Fine hair, Umbilical hernia, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent e... ORPHA:920
Cardiofaciocutaneous Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Low posterior hairline,... ORPHA:1340
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, Nail dyspl... OMIM:612199
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Intrauterine growth retardation, Sparse hair, Fine hair, Brittle hair OMIM:618891
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Umbilical hernia, Long eyelashes, Intrauterine g... OMIM:601358
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys OMIM:620072
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Fine hair, Supernumerary nipple, Long eyelashes, Intrauterine growth retardation ORPHA:261349
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Intrauterine growth retardation, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair, Umbilical hernia OMIM:305450
Hallermann-Streiff Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Spina bifida, Sparse hair, Sparse scalp hair OMIM:234100
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Mucopolysaccharidosis, Type Iiid
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys OMIM:252940
Menkes Disease
Sparse hair, Umbilical hernia, Intrauterine growth retardation, Hypopigmentation of hair, Woolly ... ORPHA:565
Syndromic Diarrhea
Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair, Hypopigment... ORPHA:84064
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair, Umbilical hernia ORPHA:576
Dubowitz Syndrome
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Intrauterine growth retardatio... ORPHA:235
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Oculodentodigital Dysplasia
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Mucopolysaccharidosis Type 3
Coarse hair, Umbilical hernia, Hirsutism, Generalized hirsutism, Thick hair, Synophrys ORPHA:581
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Myelopathy, Umbilical hernia, Brittle hair, Sparse hair OMIM:252500
Eec Syndrome
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Slow-growing hair, Nail pits ORPHA:1896
Hajdu-Cheney Syndrome
Coarse hair, Umbilical hernia, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairli... ORPHA:955
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Sparse hair, Fine hair ORPHA:444072
Marshall-Smith Syndrome
Highly arched eyebrow, Hypertrichosis, Umbilical hernia, Thick eyebrow, Brittle hair, Sparse hair... OMIM:602535
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Myelomeningocele OMIM:311200
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Umbilical hernia, Hypoplastic nipples, ... OMIM:280000
Fontaine Progeroid Syndrome
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Umbilical hernia, Intrauterine growth ret... OMIM:612289
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair OMIM:613563
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Orofaciodigital Syndrome Type 1
Alopecia, Sparse hair, Coarse hair, Brittle hair ORPHA:2750
Cockayne Syndrome B
Abnormal hair morphology, Intrauterine growth retardation, Sparse hair, Dry hair OMIM:133540
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair, Stillbirth OMIM:309350
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thick eyebrow, Hypoplastic sweat glands, Synophrys ORPHA:73223
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair OMIM:218330
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Hypertrichosis, Umbilical hernia, Long eyelashes, Hypoplastic fi... OMIM:135900
Focal Dermal Hypoplasia
Supernumerary nipple, Myelomeningocele, Umbilical hernia, Ridged nail, Absent toenail, Nail dystr... OMIM:305600
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Myhre Syndrome
Intrauterine growth retardation, Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Cockayne Syndrome A
Sparse hair, Intrauterine growth retardation, Dry hair OMIM:216400
Neuroocular Syndrome 1
Highly arched eyebrow, Small nail, Umbilical hernia, Long eyelashes, Thick eyebrow, Distichiasis,... OMIM:619539
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Ogden Syndrome
Sparse eyebrow, Fine hair, Umbilical hernia, Intrauterine growth retardation, Long eyelashes OMIM:300855
Noonan Syndrome
Low posterior hairline, Coarse hair, Abnormal hair quantity ORPHA:648
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Fine hair, Umbilical hernia ORPHA:534
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Brittle hair OMIM:124000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Fine hair, Intrauterine growth retardation, Sparse eyelashes, Stillbirth, Sparse ... OMIM:210710
Renpenning Syndrome 1
Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Cockayne Syndrome
Dry hair, Fine hair ORPHA:191
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Coarse hair ORPHA:83617
Coffin-Lowry Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow OMIM:303600
Witteveen-Kolk Syndrome
High anterior hairline, Branchial fistula, Fine hair, Intrauterine growth retardation, Medial fla... OMIM:613406
Liver Disease, Severe Congenital
Intrauterine growth retardation, Dry hair, Nail dystrophy, Umbilical hernia OMIM:619991
Vascular Ehlers-Danlos Syndrome
Alopecia, Umbilical hernia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair texture, Abnor... ORPHA:286
Noonan Syndrome 1
Low posterior hairline, Woolly hair OMIM:163950
Alström Syndrome
Frontal balding, Fine hair, Hirsutism ORPHA:64

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 Ets2

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 Ets2.

No publications found that use IMPC mice or data for Ets2.

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
Ets2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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