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
Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair OMIM:616760
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair, Brittle hair OMIM:617252
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Witkop Syndrome
Nail pits, Ridged nail, Fine hair, Concave nail, Small nail, Sparse hair OMIM:189500
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormality of hair te... ORPHA:2891
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Cardiofaciocutaneous Syndrome 2
Curly hair, Fine hair, Sparse hair, Absent eyebrow OMIM:615278
Naxos Disease
Curly hair, Woolly hair, Sparse scalp hair, Abnormality of hair texture ORPHA:34217
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse ... OMIM:602400
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... ORPHA:3361
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Monilethrix
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair OMIM:158000
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Monilethrix
Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, Abnormality... ORPHA:573
Leopard Syndrome 2
Curly hair OMIM:611554
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Crandall Syndrome
Sparse body hair, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti ORPHA:202
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Curly eyelashes, Curly hair, Low posterior hairline, Thick eyebrow, Multiple rows... ORPHA:163654
Carvajal Syndrome
Woolly hair ORPHA:65282
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 Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:234030
Noonan Syndrome 6
Sparse hair, Low posterior hairline, Curly hair, Long eyebrows OMIM:613224
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Cardiofaciocutaneous Syndrome 4
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse hair, Sparse eyelashes OMIM:615280
Smith-Kingsmore Syndrome
Curly hair, Umbilical hernia OMIM:616638
Hypotrichosis 7
Sparse body hair, Sparse axillary hair, Brittle hair, Abnormality of the nail, Abnormal sweat gla... OMIM:604379
Hypodontia-Dysplasia Of Nails Syndrome
Thin toenail, Fine hair, Abnormality of the nail, Fragile nails, Abnormal fingernail morphology, ... ORPHA:2228
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, Abnormal hair m... ORPHA:248
Noonan Syndrome 5
Curly hair, Fine hair, Sparse eyebrow, Small nail OMIM:611553
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair OMIM:616099
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Curly hair, Short eyelashes, Concave nail, Hypoplastic fin... OMIM:258360
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Sparse eyebrow, Curly hair, Synophrys OMIM:620075
Trichodental Dysplasia
Sparse hair, Fine hair, Brittle hair, Slow-growing hair OMIM:601453
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Hypotrichosis 12
Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse or absent ... OMIM:615885
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypotrichosis 6
Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Pili torti OMIM:607903
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Fine hair, Slow-growing hair, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:129490
Woolly Hair, Autosomal Dominant
Abnormal eyelash morphology, Abnormal eyebrow morphology, Coarse hair, Slow-growing hair, Woolly ... OMIM:194300
Choroidal Atrophy-Alopecia Syndrome
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Ung... ORPHA:1433
Noonan Syndrome 8
Curly hair OMIM:615355
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Low posterior hairline, Intrauterine growth retardation, Thick eyebrow, Highly arched... OMIM:617360
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Tiger tail banding OMIM:618546
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Brittle hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Abnormal sweat g... OMIM:614929
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Sparse hair, Pili ... ORPHA:113
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Hypotrichosis Simplex Of The Scalp
Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebrow morphology, Fine ... ORPHA:90368
Clouston Syndrome
Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Alopecia, Small nail,... OMIM:129500
Pili Torti, Early-Onset
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... OMIM:261900
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair ORPHA:1882
Ectodermal Dysplasia-Syndactyly Syndrome 1
Patchy alopecia, Absent facial hair, Alopecia, Small nail, Coarse hair, Hypoplastic toenails, Spa... OMIM:613573
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Curly hair, Fine hair, Brittle hair, Intrauterine growth retardation, Wooll... OMIM:222470
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyeb... OMIM:225060
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Umbilical hernia, Brittle hair, Abnormality of the nail, Intrauterine g... ORPHA:2963
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Brittle hair, Pili torti, Sparse scalp hair ORPHA:1573
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia universalis, Brittle hair, Alopecia, Absent eyelashes, Absent eyebrow,... ORPHA:2890
Bjornstad Syndrome
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... OMIM:262000
Sabinas Brittle Hair Syndrome
Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair OMIM:211390
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome 4
Curly hair, High anterior hairline, Sparse eyebrow OMIM:610733
Hypotrichosis 13
Sparse hair, Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes OMIM:615896
Naxos Disease
Sparse body hair, Onycholysis, Curly hair, Woolly hair, Sparse eyebrow, Subungual hyperkeratosis,... OMIM:601214
Craniofrontonasal Syndrome
Ridged nail, Breast hypoplasia, Curly hair, Umbilical hernia, Widow's peak, Low posterior hairlin... OMIM:304110
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Brittle hair, Alopecia, Sparse eyebrow, Leukonychia, Sparse hair OMIM:104100
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Brittle hair, Low anterior hairline, Thin eyebrow OMIM:617392
Oculodentodigital Dysplasia
Curly hair, Umbilical hernia, Brittle hair, Abnormality of the nail, Fine hair, Abnormal fingerna... ORPHA:2710
Noonan Syndrome 14
Sparse hair, Low posterior hairline, Sparse eyebrow, Curly hair OMIM:619745
Chops Syndrome
Long eyelashes, Thick hair, Synophrys, Curly hair, Thick eyebrow, Coarse hair OMIM:616368
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Amaurosis-Hypertrichosis Syndrome
Synophrys, Coarse hair, Abnormal eyelash morphology, Thick eyebrow ORPHA:1021
Trichothiodystrophy 6, Nonphotosensitive
Mild intrauterine growth retardation, Brittle hair, Tiger tail banding, Slow-growing hair OMIM:616943
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Intrauterine growth retardation, Woolly hair... OMIM:614602
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Brittle hair, Concave nail, Small nail, Abnormality of hair... OMIM:234050
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Trichohepatoneurodevelopmental Syndrome
Long eyelashes, Synophrys, Hypoplastic nipples, Curly hair, Coarse hair, Woolly hair, Thoracic hy... OMIM:618268
Cardiofaciocutaneous Syndrome 1
Curly hair, Low posterior hairline, Absent eyelashes, Absent eyebrow, Slow-growing hair, Sparse hair OMIM:115150
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Low posterior hairline, Highly arched eyebrow, Slow-growing hair, High anterior hairl... OMIM:617506
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Abnormality of hair texture, Nail dystrophy OMIM:601957
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Coarse hair, Sparse hair, Pili torti OMIM:301845
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Intrauterine growth retardation, Alopecia ORPHA:50812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Mucopolysaccharidosis, Type Iiia
Synophrys, Umbilical hernia, Hirsutism, Coarse hair OMIM:252900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Craniofrontonasal Dysplasia
Widow's peak, Low posterior hairline, Abnormality of hair texture, Woolly hair, Ridged fingernail ORPHA:1520
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Weaver Syndrome
Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails ORPHA:3447
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Trichothiodystrophy 5, Nonphotosensitive
Tiger tail banding, Brittle hair, Intrauterine growth retardation, Slow-growing hair, Sparse eyeb... OMIM:300953
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Long eyelashes, Loose anagen hair, Curly hair, Sparse hair, Sparse scalp hair OMIM:607721
Noonan Syndrome 2
Curly hair, Low posterior hairline, Sparse eyebrow OMIM:605275
Noonan Syndrome 10
Curly hair, Sparse eyebrow OMIM:616564
Skin fragility-woolly hair syndrome
Alopecia, Woolly hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes OMIM:607655
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, High anterior hairline, Long eyelashes ORPHA:231137
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Intrauterine growth retardation, Alopecia, Coarse hair, Nail dystrophy ORPHA:75389
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Vulto-Van Silfhout-De Vries Syndrome
Fine hair, Widow's peak, Horizontal eyebrow OMIM:615828
Acrogeria
Fine hair ORPHA:2500
Giant Axonal Neuropathy
Pili canaliculi, Woolly hair ORPHA:643
Hereditary Mucoepithelial Dysplasia
Sparse hair, Fine hair, Alopecia ORPHA:1839
Distal Duplication 6P
Abnormal hair quantity, Fine hair, Intrauterine growth retardation, Abnormal eyelash morphology ORPHA:1745
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Fine hair, Intrauterine growth retardation, Alopecia ORPHA:228390
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Leukonychia, Fragile nails, Nail dystrophy OMIM:615821
Menkes Disease
Sparse hair, Brittle hair, Intrauterine growth retardation, Alopecia OMIM:309400
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Pachyonychia Congenita 2
Nail dysplasia, Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse scalp ... OMIM:167210
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long eyelashes, Thick hair, Abnormal toenail morphology, Synophrys, Curly hair, Thick eyebrow, Ab... ORPHA:444077
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Umbilical hernia, Generalized hirsutism, Low anterior hairline ORPHA:2095
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails ORPHA:1028
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Fine hair, Hyperconvex thumb nails, Abnormal fingernail morphology ORPHA:3079
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Long eyelashes, Curly hair, Low anterior hairline, Thick eyebrow, Horizontal eyebrow, Sparse late... OMIM:619950
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, Intrauterine growth retardation, Abnormality of hair texture OMIM:219200
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair, Spina bifida occulta ORPHA:1185
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent hair, Brittle hair, Absent nipple OMIM:614940
Netherton Syndrome
Trichorrhexis nodosa, Fine hair, Sparse eyebrow, Abnormal hair morphology, Sparse eyelashes, Spar... ORPHA:634
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair, Intrauterine growth retardation OMIM:616817
Fetal Hydantoin Syndrome
Hypoplastic fingernail, Coarse hair, Low posterior hairline, Intrauterine growth retardation ORPHA:1912
Zttk Syndrome
Curly hair, Sparse eyebrow, Intrauterine growth retardation, Broad eyebrow OMIM:617140
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Brachycephaly, Trichomegaly, And Developmental Delay
Long eyelashes, Synophrys, Brittle hair, Thick eyebrow, Highly arched eyebrow OMIM:617412
Tonne-Kalscheuer Syndrome
Fine hair, Concave nail, Small nail OMIM:300978
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Rapp-Hodgkin Syndrome
Onychogryposis, Uncombable hair, Fine hair, Supernumerary nipple, Decreased number of sweat gland... OMIM:129400
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Supernumerary nipple, Fine hair, Intrauterine growth retardation, Sparse lateral ... ORPHA:217346
Odontoonychodermal Dysplasia
Short nail, Sparse body hair, Anonychia, Nail dysplasia, Ridged nail, Fine hair, Dystrophic finge... OMIM:257980
Trichothiodystrophy 3, Photosensitive
Brittle hair, Intrauterine growth retardation, Tiger tail banding, Trichorrhexis nodosa OMIM:616395
Adult Syndrome
Toenail dysplasia, Nail pits, Breast hypoplasia, Hypoplastic nipples, Abnormality of the nail, Fi... ORPHA:978
Costello Syndrome
Curly hair, Deep-set nails, Concave nail, Fragile nails, Thin nail, Sparse hair OMIM:218040
Mucopolysaccharidosis, Type Iiic
Hypertrichosis, Coarse hair, Hirsutism, Synophrys OMIM:252930
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Coarse hair, Spina bifida occulta, Abnormal hair pattern ORPHA:1786
Trichothiodystrophy 1, Photosensitive
Trichoschisis, Tiger tail banding, Trichorrhexis nodosa, Fine hair, Brittle hair, Fragile nails, ... OMIM:601675
Netherton Syndrome
Brittle hair, Sparse eyebrow, Sparse scalp hair, Brittle scalp hair OMIM:256500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Synophrys, Fine hair, Low anterior hairline, Intrauterine growth retardation, Sparse hair ORPHA:391408
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Neonatal death OMIM:618810
Jaberi-Elahi Syndrome
Fine hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:617988
Trichodermodysplasia-Dental Alterations Syndrome
Fine hair, Brittle hair, Sparse lateral eyebrow, Sparse or absent eyelashes, Aplasia/Hypoplasia o... ORPHA:3353
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Low anterior hairline, Broad eyebrow, Highly arched eyebrow, Woolly hair, Hirsutism OMIM:619244
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Intrauterine growth retardation, Abnormality of hair texture ORPHA:79351
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Brittle hair, Dry hair, Nail dystrophy ORPHA:93947
Trichorhinophalangeal Syndrome, Type I
Fine hair, Concave nail, Thin nail, Sparse lateral eyebrow, Slow-growing hair, Leukonychia, Spars... OMIM:190350
X-Linked Dominant Chondrodysplasia Punctata
Patchy alopecia, Abnormality of the nail, Coarse hair, Sparse eyebrow, Scarring alopecia of scalp... ORPHA:35173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Revesz Syndrome
Nail pits, Fine hair, Intrauterine growth retardation, Nail dystrophy, Sparse hair, Ridged finger... OMIM:268130
Frontonasal Dysplasia 2
Encephalocele, Fine hair, Intrauterine growth retardation, Sparse eyebrow, Sparse hair, Sparse ey... OMIM:613451
Costello Syndrome
Deep-set nails, Concave nail, Abnormal fingernail morphology, Woolly hair, Hypoplastic toenails, ... ORPHA:3071
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Intrauterine growth retardation ORPHA:363686
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Fine hair, Abnormal fingernail morphology ORPHA:1806
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Long eyelashes, Curly hair, Synophrys, Thick eyebrow, Horizontal eyebrow, High anterior hairline,... OMIM:619503
Incontinentia Pigmenti
Nail pits, Nail dysplasia, Ridged nail, Breast hypoplasia, Onychogryposis, Hypoplastic nipples, F... OMIM:308300
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Alopecia OMIM:613990
Trisomy 20P
Thick hair, Spina bifida, Umbilical hernia, Low posterior hairline, Low anterior hairline, Thick ... ORPHA:261318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Sparse eyebrow, Intrauterine growth retardation, Broad lateral eyebrow ORPHA:500150
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Hirsutism, Thick eyebrow, Coarse hair OMIM:253220
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Cerebrofaciothoracic Dysplasia
Synophrys, Low posterior hairline, Thick eyebrow, Coarse hair, Abnormal hair pattern ORPHA:1394
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Chronic monilial nail infection, Alopecia, Coarse hair, Nail dystrophy, Sparse hair OMIM:158310
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Fine hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Ogden Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair, Intrauterine growth retardation OMIM:614438
Cartilage-Hair Hypoplasia
Sparse facial hair, Fine hair, Sparse eyebrow, Fair hair, Sparse hair, Sparse eyelashes OMIM:250250
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Mucopolysaccharidosis-Plus Syndrome
Long eyelashes, Synophrys, Low posterior hairline, Low anterior hairline, Coarse hair, Hirsutism OMIM:617303
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse body hair, Hypoplastic nipples, Brittle hair, Aplasia/Hypoplastia of the eccrine sweat gla... OMIM:305100
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia, Coarse hair OMIM:130720
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Brittle hair, Alopecia OMIM:608612
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Fine hair, Thick eyebrow OMIM:614800
Trichothiodystrophy
Ridged nail, Tiger tail banding, Umbilical hernia, Brittle hair, Concave nail, Dystrophic fingern... ORPHA:33364
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Nail dysplasia, Intrauterine growth retardation OMIM:612394
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Intrauterine growth retardation OMIM:619184
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Fine hair, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow ORPHA:1812
Schimke Immunoosseous Dysplasia
Fine hair, Intrauterine growth retardation, Coarse hair OMIM:242900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hyperconvex nail, Supernumerary nipple, Hyperconvex fingernails, Dystrophic fingernails, Dystroph... ORPHA:1071
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Umbilical hernia, Fine hair, Absent eyelashes, Absent eyebrow, Sparse hair, Ab... ORPHA:920
Weaver Syndrome
Umbilical hernia, Deep-set nails, Fine hair, Thin nail, Sparse hair OMIM:277590
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystr... OMIM:612199
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Intrauterine growth retardation, Thick hair ORPHA:357074
Cardiofaciocutaneous Syndrome
Abnormal eyelash morphology, Fine hair, Brittle hair, Low posterior hairline, Dystrophic fingerna... ORPHA:1340
Argininosuccinic Aciduria
Brittle hair, Dry hair, Trichorrhexis nodosa OMIM:207900
Koolen-De Vries Syndrome
Intrauterine growth retardation, Fair hair, Abnormality of hair texture OMIM:610443
Diamond-Blackfan Anemia 21
Synophrys, Coarse hair, Widow's peak, Horizontal eyebrow OMIM:620072
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair, Intrauterine growth retardation OMIM:618891
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Supernumerary nipple, Fine hair, Intrauterine growth retardation, Sparse eyebrow ORPHA:261349
Nicolaides-Baraitser Syndrome
Long eyelashes, Hypertrichosis, Umbilical hernia, Low posterior hairline, Low anterior hairline, ... OMIM:601358
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Hallermann-Streiff Syndrome
Sparse body hair, Alopecia, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse eyel... ORPHA:2108
Cranioectodermal Dysplasia 3
Sparse hair, Fine hair, Broad nail, Short nail OMIM:614099
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Dry hair OMIM:618569
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardation ORPHA:2637
Opitz-Kaveggia Syndrome
Sparse hair, Umbilical hernia, Fine hair, Frontal upsweep of hair OMIM:305450
Mucopolysaccharidosis, Type Iiid
Synophrys, Thick eyebrow, Coarse hair, Hirsutism, Facial hirsutism OMIM:252940
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair ORPHA:935
Genitopatellar Syndrome
Fine hair, Sparse scalp hair ORPHA:85201
Hallermann-Streiff Syndrome
Spina bifida, Fine hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair OMIM:234100
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Intrauterine growth retardation, Hypopigment... ORPHA:84064
Menkes Disease
Umbilical hernia, Intrauterine growth retardation, Hypopigmentation of hair, Woolly hair, Sparse ... ORPHA:565
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Dubowitz Syndrome
Fine hair, Low anterior hairline, Intrauterine growth retardation, Abnormal fingernail morphology... ORPHA:235
Cerebellofaciodental Syndrome
Fine hair, Sparse eyebrow OMIM:616202
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Mucolipidosis Type Ii
Umbilical hernia, Fine hair, Dry hair, White hair ORPHA:576
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Oculodentodigital Dysplasia
Fine hair, Fragile nails, Slow-growing hair, Dry hair, Sparse hair OMIM:164200
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Mucopolysaccharidosis Type 3
Thick hair, Synophrys, Umbilical hernia, Coarse hair, Hirsutism, Generalized hirsutism ORPHA:581
Eec Syndrome
Nail pits, Fine hair, Thick eyebrow, Coarse hair, Slow-growing hair, Sparse eyebrow, Nail dystrophy ORPHA:1896
Adrenomyeloneuropathy
Fine hair, Frontal balding ORPHA:139399
Mucolipidosis Ii Alpha/Beta
Umbilical hernia, Brittle hair, Myelopathy, Sparse eyebrow, Sparse hair OMIM:252500
Hajdu-Cheney Syndrome
Synophrys, Umbilical hernia, Low anterior hairline, Thick eyebrow, Abnormal fingernail morphology... ORPHA:955
Cerebellar-Facial-Dental Syndrome
Sparse hair, Fine hair, Sparse eyebrow ORPHA:444072
Marshall-Smith Syndrome
Hypertrichosis, Synophrys, Umbilical hernia, Brittle hair, Thick eyebrow, Highly arched eyebrow, ... OMIM:602535
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Myelomeningocele OMIM:311200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Umbilical hernia, Hypoplastic nipples, Fine hair, Sparse lateral eyebrow, Highly arched eyebrow, ... OMIM:280000
Fontaine Progeroid Syndrome
Anonychia, Synophrys, Umbilical hernia, Hypoplastic nipples, Low posterior hairline, Low anterior... OMIM:612289
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Sparse hair, Highly arched eyebrow, Fine hair, Low posterior hairline OMIM:613563
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Patchy alopecia, Sparse axillary hair, Fine hair, Breast aplasia, Sparse hair, Sp... OMIM:181270
Woodhouse-Sakati Syndrome
Sparse hair, Fine hair, Alopecia OMIM:241080
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Onycholysis, Fine hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614748
Noonan Syndrome
Abnormal hair quantity, Coarse hair, Low posterior hairline ORPHA:648
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture ORPHA:73223
Orofaciodigital Syndrome Type 1
Sparse hair, Coarse hair, Brittle hair, Alopecia ORPHA:2750
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair, Stillbirth OMIM:309350
Cranioectodermal Dysplasia 1
Fine hair, Thin nail, Slow-growing hair, Sparse hair, Short nail OMIM:218330
Cockayne Syndrome B
Abnormal hair morphology, Intrauterine growth retardation, Sparse hair, Dry hair OMIM:133540
Coffin-Siris Syndrome 1
Anonychia, Long eyelashes, Facial hypertrichosis, Umbilical hernia, Hypoplastic fifth fingernail,... OMIM:135900
Focal Dermal Hypoplasia
Nail dysplasia, Patchy alopecia, Ridged nail, Myelomeningocele, Supernumerary nipple, Umbilical h... OMIM:305600
Chime Syndrome
Sparse hair, Fine hair ORPHA:3474
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Myhre Syndrome
Sparse hair, Fine hair, Intrauterine growth retardation, Thick eyebrow OMIM:139210
Neuroocular Syndrome
Long eyelashes, Synophrys, Umbilical hernia, Brittle hair, Distichiasis, Thick eyebrow, Small nai... OMIM:619539
Cockayne Syndrome A
Sparse hair, Intrauterine growth retardation, Dry hair OMIM:216400
Ogden Syndrome
Long eyelashes, Fine hair, Umbilical hernia, Intrauterine growth retardation, Sparse eyebrow OMIM:300855
Distal Deletion 12Q
Fine hair, Small nail ORPHA:96149
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Neonatal death OMIM:124000
Oculocerebrorenal Syndrome Of Lowe
Umbilical hernia, Fine hair, Sparse scalp hair ORPHA:534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Fine hair, Intrauterine growth retardation, Stillbirth, Sparse eyebrow, Sparse hair, Sparse eyela... OMIM:210710
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Renpenning Syndrome 1
Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Intrauterine growth retardation ORPHA:83617
Coffin-Lowry Syndrome
Highly arched eyebrow, Hyperconvex fingernails, Thick eyebrow, Coarse hair OMIM:303600
Cockayne Syndrome
Fine hair, Dry hair ORPHA:191
Witteveen-Kolk Syndrome
Hyperconvex nail, Fine hair, Branchial fistula, Fragile nails, Intrauterine growth retardation, H... OMIM:613406
Liver Disease, Severe Congenital
Umbilical hernia, Intrauterine growth retardation, Dry hair, Nail dystrophy OMIM:619991
Noonan Syndrome 1
Woolly hair, Low posterior hairline OMIM:163950
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Umbilical hernia, Alopecia, Abnormality of hair texture, Aplasia/Hyp... ORPHA:286
Alström Syndrome
Fine hair, Hirsutism, Frontal balding 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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