Not currently registered for phenotyping at IMPC

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

Gene Summary

neuregulin 3

IMPC Data Collections

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

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.

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 Nrg3 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 Nrg3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Bullous Lichen Planus
Breast aplasia ORPHA:33408
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dystrophy, Sparse hair, Supernumerary nipple OMIM:275450
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia OMIM:612242
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Sparse hair, Sparse or absent eyelashes, Supernumerary nipple ORPHA:1433
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the breasts, Hypoplastic ... OMIM:113700
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples OMIM:129550
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyebrow, Absent eyelashes, Sparse scalp hair, Trichodysplasia, Sparse body hair, Supernume... ORPHA:1809
Cerebellar Ataxia-Hypogonadism Syndrome
Gynecomastia, Supernumerary nipple ORPHA:1173
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Becker Nevus Syndrome
Unilateral breast hypoplasia OMIM:604919
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Breast aplasia, Eleva... ORPHA:3044
Barber-Say Syndrome
Hypoplastic nipples, Generalized hirsutism, Sparse or absent eyelashes, Breast aplasia, Aplasia/H... ORPHA:1231
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple OMIM:619243
Becker Nevus Syndrome
Aplasia/Hypoplasia of the breasts, Supernumerary nipple ORPHA:64755
Developmental And Epileptic Encephalopathy 51
Supernumerary nipple OMIM:617339
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Increased circulating gonadotropin level, Cryptorchidism, Breast a... ORPHA:755
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Hypoplastic nipples, Hypoplastic areola, Absent nipple, Cryptorchidism OMIM:616001
Tyshchenko Syndrome
Cryptorchidism, Thick hair, Low anterior hairline, Supernumerary nipple OMIM:615102
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Nail dystrophy, Coarse ha... OMIM:308300
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Slow-growing hair, Ap... ORPHA:238468
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology ORPHA:90153
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Sparse hair, Absent hair OMIM:614940
19Q13.11 Microdeletion Syndrome
Fine hair, Sparse lateral eyebrow, Wide intermamillary distance, Sparse or absent eyelashes, Cryp... ORPHA:217346
Ulnar-Mammary Syndrome
Breast aplasia, Cryptorchidism, Hypoplastic nipples, Absent axillary hair ORPHA:3138
Limb-Mammary Syndrome
Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilateral breast hypoplasia,... ORPHA:69085
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Char Syndrome
Supernumerary nipple ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia ORPHA:276413
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Hypoplastic areola OMIM:273400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:2519
Scalp-Ear-Nipple Syndrome
Fine hair, Abnormal hair morphology, Aplasia/Hypoplasia of the nipples, Breast aplasia, Sparse hair OMIM:181270
Scalp-Ear-Nipple Syndrome
Breast aplasia, Aplasia/Hypoplasia of the nipples, Sparse hair ORPHA:2036
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low posterior hairline, Cryptorchidism, Supernumerary nipple, Synophrys OMIM:618929
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse body hair, Supernumer... OMIM:106260
Moebius Syndrome
Breast aplasia ORPHA:570
Limb-Mammary Syndrome
Hypoplastic nipples OMIM:603543
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Sparse scalp hair, Sparse and thin eyebrow, Wide intermamillary distance, ... ORPHA:1001
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Aplasia/Hypoplasia of the eyebrow, Cryptorchidism, Supernumerary nipple ORPHA:1812
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Supernumerary nipple OMIM:141750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia of the nipples, Low posterior hairline, Sparse eyebrow, Supernumerary nipple ORPHA:1521
Bohring-Opitz Syndrome
Hirsutism, Low anterior hairline, Hyperechogenic pancreas, Wide intermamillary distance, Thick ha... OMIM:605039
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... OMIM:211370
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Sparse pubic hair, Gonadotropin deficiency, Bilateral breast hypoplasia, Hype... ORPHA:52901
Adult Syndrome
Hypoplastic nipples, Alopecia of scalp, Sparse axillary hair, Sparse scalp hair, Wide intermamill... OMIM:103285
Adult Syndrome
Fine hair, Hypoplastic nipples, Alopecia, Sparse scalp hair, Absent nipple, Breast hypoplasia ORPHA:978
Postaxial Acrofacial Dysostosis
Cryptorchidism, Supernumerary nipple OMIM:263750
3Mc Syndrome
Highly arched eyebrow, Bilateral cryptorchidism, Supernumerary nipple ORPHA:293843
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Low anterior hairline, Dystrophic toenail, Long eyelashes, Low posterior hairline, Supernumerary ... OMIM:604314
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hy... ORPHA:2235
2P15P16.1 Microdeletion Syndrome
Fine hair, Gynecomastia, Long eyelashes, Wide intermamillary distance, Sparse and thin eyebrow, D... ORPHA:261349
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Hypoplastic nipples, Sparse lateral eyebrow, Sparse scalp hair, Absent nipple, ... OMIM:614941
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Cryptorchidism, Supernumerary nipple OMIM:618454
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Dystrophic fingernails, Dystrophic toenail, Coarse hair, Sparse and thin eyebro... ORPHA:1071
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Cryptorchidism, Supernumerary nipple, Synophrys OMIM:616728
Meier-Gorlin Syndrome 4
Cryptorchidism, Breast hypoplasia OMIM:613804
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Supernumerary nipple ORPHA:247262
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, Thin eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Sp... OMIM:615485
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypoplastic nipples OMIM:177980
Ear-Patella-Short Stature Syndrome
Breast aplasia, Cryptorchidism ORPHA:2554
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Increased circulating gonadotropin level ORPHA:785
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Poliosis, Highly arched eyebrow, Sparse eyelashes, Low anterior hairline, Low posterior hairline,... OMIM:213980
Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Synophrys OMIM:269921
Kleefstra Syndrome
Highly arched eyebrow, Cryptorchidism, Supernumerary nipple, Synophrys ORPHA:261494
Oculoectodermal Syndrome
Supernumerary nipple OMIM:600268
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypertrichosis, Sparse eyebrow, High anterior hairline, Sparse scalp hair, Cryptorchidism, Supern... ORPHA:477993
Ring Chromosome 12 Syndrome
Cryptorchidism, Breast hypoplasia, Hirsutism, Dystrophic toenail ORPHA:1439
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple OMIM:257920
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Breast aplasia, Posterior pituitary hypoplasia, Cryptorchidism, Decreased response to growth horm... ORPHA:268261
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Supernumerary nipple ORPHA:397715
Normosmic Congenital Hypogonadotropic Hypogonadism
Gynecomastia, Hypoplasia of the ovary, Cryptorchidism, Female hypogonadism, Breast hypoplasia, De... ORPHA:432
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Cryptorchidism, Sparse hair, Wide intermamillary dis... ORPHA:3134
Bannayan-Riley-Ruvalcaba syndrome
Supernumerary nipple OMIM:153480
Incontinentia Pigmenti
Alopecia, Abnormal hair morphology, Supernumerary nipple, Dystrophic toenail ORPHA:464
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Cryptorchidism, Supernumerary nipple OMIM:618653
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyelashes, Hypoplastic nipples, Low anterior hairline, Sparse and t... OMIM:608156
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Pitt-Hopkins Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:2896
Gapo Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Breast hypoplasia OMIM:230740
Meier-Gorlin Syndrome 2
Breast hypoplasia OMIM:613800
Barber-Say Syndrome
Hypertrichosis, Sparse and thin eyebrow, Absent nipple, Hypoplastic nipples OMIM:209885
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Wide intermamillary distance OMIM:156610
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
High anterior hairline, Cryptorchidism, Supernumerary nipple OMIM:619194
Scarf Syndrome
Hypoplastic nipples, Low anterior hairline, Low posterior hairline, Cryptorchidism, Sparse hair, ... OMIM:312830
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia ORPHA:319675
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple OMIM:100300
Kallmann Syndrome
Gynecomastia, Anterior hypopituitarism, Cryptorchidism, Breast hypoplasia, Decreased testicular size ORPHA:478
Czeizel-Losonci Syndrome
Hypoplastic nipples, Wide intermamillary distance ORPHA:2437
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia of scalp, Streak ovary, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Increa... ORPHA:2232
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inverted nipples, Cryptorchidism, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inverted nipples, Cryptorchidism, Supernumerary nipple ORPHA:352665
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Long eyelashes, Cryptorchidism, Breast hypoplasia, Absent axillary hair OMIM:601353
Carpenter Syndrome 2
Highly arched eyebrow, Hypoplastic nipples, Wide intermamillary distance, Sparse and thin eyebrow... OMIM:614976
Martin-Probst Syndrome
Cryptorchidism, Hypoplastic nipples, Wide intermamillary distance OMIM:300519
Craniofrontonasal Syndrome
Unilateral breast hypoplasia, Breast hypoplasia, Low posterior hairline, Cryptorchidism, Widow's ... OMIM:304110
Sheehan Syndrome
Abnormal size of pituitary gland, Pituitary hypothyroidism, Secondary growth hormone deficiency, ... ORPHA:91355
Meier-Gorlin Syndrome 3
Sparse axillary hair, Cryptorchidism, Breast hypoplasia, Sparse pubic hair OMIM:613803
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:373
Ulnar-Mammary Syndrome
Inverted nipples, Axillary apocrine gland hypoplasia, Hypoplastic nipples, Sparse lateral eyebrow... OMIM:181450
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Sparse hair OMIM:614813
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyelashes, Hypoplastic nipples, Brittle h... OMIM:305100
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Wide intermamillary distance, Cryptorchidism, Supernumerary nipple OMIM:218649
Trichohepatoneurodevelopmental Syndrome
Hypoplastic nipples, Hypertrichosis, Coarse hair, Cholelithiasis, Curly hair, Woolly hair, Synophrys OMIM:618268
Focal Dermal Hypoplasia
Hypoplastic nipples, Nail dystrophy, Brittle hair, Abnormality of hair texture, Cryptorchidism, P... OMIM:305600
Ablepharon Macrostomia Syndrome
Fine hair, Sparse hair, Aplasia/Hypoplasia of the nipples, Absent eyebrow, Abnormal hair pattern,... ORPHA:920
Inverted nipples, Long eyelashes, Hirsutism, Hypoplastic nipples ORPHA:79329
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Supernumerary nipple ORPHA:466791
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Hypoplastic nipples ORPHA:261323
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypertrichosis, Unilateral breast hypoplasia OMIM:300968
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Fine hair, Low-set nipples, Sparse hair, Hypoplastic nipples OMIM:280000
Branchiooculofacial Syndrome
White forelock, Wide intermamillary distance, Low posterior hairline, Cryptorchidism, Sparse hair... OMIM:113620
Aymé-Gripp Syndrome
Sparse scalp hair, Cryptorchidism, Breast hypoplasia, Long eyelashes ORPHA:1272
Mowat-Wilson Syndrome
Broad eyebrow, Cryptorchidism, Supernumerary nipple OMIM:235730
Meier-Gorlin Syndrome 1
Cryptorchidism, Breast hypoplasia, Long eyelashes OMIM:224690
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Hypoplastic nipples OMIM:265000
Simpson-Golabi-Behmel Syndrome, Type 1
Short nail, Hypertrichosis, Cryptorchidism, Wide intermamillary distance, Supernumerary nipple OMIM:312870
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Breast hypoplasia, Cryptorchidism ORPHA:464306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Nail dystro... OMIM:604292
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the breast OMIM:200980
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Wide intermamillary distance OMIM:269860
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Hypoplastic nipples, Hirsutism, Curly eyelashes, Long eyelashes, Low poste... OMIM:122470
Inverted nipples, Hypoplastic nipples, Hypertrichosis, Hypoplasia of the ovary, Low posterior hai... ORPHA:79328
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Sparse scal... OMIM:129900
Schinzel-Giedion Midface Retraction Syndrome
Hypertrichosis, Hypoplastic nipples, Splenopancreatic fusion OMIM:269150
Branchioskeletogenital Syndrome
Absent nipple, Synophrys, Highly arched eyebrow ORPHA:1299
Gabriele-De Vries Syndrome
Sparse eyebrow, Cryptorchidism, Decreased response to growth hormone stimulation test, Breast hyp... ORPHA:506358
Pallister-Killian Syndrome
Sparse eyelashes, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse anterior scalp hair, Sparse... OMIM:601803
Fontaine Progeroid Syndrome
Hypertrichosis, Hypoplastic nipples, Low anterior hairline, Low posterior hairline, Coarse hair, ... OMIM:612289
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Hypoplastic nipples, Frontal hirsutism, Cryptorchidism, Wide intermamillary dis... ORPHA:96334
Cornelia De Lange Syndrome
Highly arched eyebrow, Hypoplastic nipples, Low anterior hairline, Curly eyelashes, Long eyelashe... ORPHA:199
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Curly hair, Hypertrichosis, Hypoplastic nipples ORPHA:480880
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Hypoplastic nipples OMIM:276820
Johanson-Blizzard Syndrome
Hypoplastic nipples, Sparse scalp hair, Cryptorchidism, Frontal upsweep of hair, Fair hair OMIM:243800
Yunis-Varon Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse eyebrow, Sparse scalp hair, Absent nipple, Cryptorc... OMIM:216340


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 Nrg3

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 Nrg3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Subcellular sorting of neuregulins controls the assembly of excitatory-inhibitory cortical circuits. eLife (December 2020) Nrg3tm1a(KOMP)Mbp PMC7755390

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MGI Allele Allele Type Produced
Nrg3tm109229(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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