Gene Summary

Name:
EYA transcriptional coactivator and phosphatase 4
Synonyms:
B130023L16Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Eya4tm1b(KOMP)Wtsi HOM   Early adult 0.00
edema Eya4tm1b(KOMP)Wtsi HOM E15.5 0.00
edema Eya4tm1b(KOMP)Wtsi HET E15.5 0.00
abnormal embryo size Eya4tm1b(KOMP)Wtsi HOM E15.5 0.00
small adrenal glands Eya4tm1b(KOMP)Wtsi HET Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone  Section images heterozygote 0.0% (0 of 1)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (3 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (3 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Handplate N/A heterozygote 100% (3 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (3 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (3 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (3 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (3 of 3)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (3 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 3)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Embryo LacZ

LacZ images wholemount

46 Images

X-ray

XRay Images Hind Leg and Hip

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Adult LacZ

LacZ Images Section

7 Images

Human diseases caused by Eya4 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.

The table below shows human diseases associated to Eya4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sensorineural Deafness With Dilated Cardiomyopathy
Hearing impairment, Recurrent infections of the middle ear ORPHA:217622
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment OMIM:605362

The table below shows human diseases predicted to be associated to Eya4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma OMIM:202300
Lipedema
Edema OMIM:614103
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Deafness, Conductive, With Malformed External Ear
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormality of the pinna, ... OMIM:221300
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Isolated Cleft Lip
Polyhydramnios, Conductive hearing impairment, Chronic otitis media, Non-midline cleft lip, Hypod... ORPHA:199302
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Lymphatic Malformation 2
Lymphedema OMIM:611944
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Accessory oral frenulum, Large earlobe, Absent tragus, Overfolded h... ORPHA:79113
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari... OMIM:611102
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Abcd Syndrome
Large for gestational age, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic m... OMIM:600501
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Atresia of the external auditory canal, Sensorineural hea... OMIM:609166
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia OMIM:251800
Deafness-Infertility Syndrome
Male infertility, Sensorineural hearing impairment, Azoospermia ORPHA:94064
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the dentition, Abnormality of the out... OMIM:182290
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... ORPHA:3236
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormality of the Eustachian tube, Absent cupid's bow, Failure to thrive... ORPHA:513456
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Velopharyngeal Incompetence
Hearing impairment, Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... ORPHA:99772
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Lymphatic Malformation 3
Lymphedema OMIM:613480
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Acrocraniofacial Dysostosis
Short philtrum, Conductive hearing impairment, Natal tooth, Abnormality of the outer ear, Abnorma... OMIM:201050
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Short philtrum, Abnormality of ... ORPHA:949
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth OMIM:183300
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
White Sponge Nevus 2
Edema OMIM:615785
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Chronic rhinitis, Male in... OMIM:612444
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Premature ovarian insufficiency, Male hypogonadism, Iridocyclitis, Chronic ora... OMIM:240300
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairment, Atresia o... ORPHA:2789
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral cleft, P... ORPHA:199306
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Lateral Meningocele Syndrome
Long philtrum, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impair... OMIM:130720
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Lymphatic Malformation 10
Lymphedema OMIM:619369
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, As... ORPHA:52368
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Immotile sperm, Recurrent sinusitis, Absent outer dynein arms, Rhinitis, ... OMIM:614874
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Intestinal malrotation, Cupped ear, Sen... OMIM:113650
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Immotile spe... OMIM:613807
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Arthrogryposis, Distal, Type 2A
Pursed lips, Long philtrum, Polyhydramnios, Narrow mouth, Oligohydramnios, Dental crowding, Heari... OMIM:193700
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Chronic otitis media, Pneumonia... OMIM:244400
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Male hypogonadism, Macrotia, Hypoplasia of ... ORPHA:90321
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Trisomy 8P
Thin vermilion border, Malrotation of small bowel, Conductive hearing impairment, Morphological a... ORPHA:264450
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Trisomy 10P
Thin vermilion border, Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated... ORPHA:171929
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Wide mouth, Irregular dentition, Abnormal auditory evoked potentials, Sensorineural hearing impai... OMIM:619260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Fraser Syndrome 1
Difficulty in tongue movements, Dental crowding, Conductive hearing impairment, Abnormality of th... OMIM:219000
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Macronodular adrenal hyperplasia ORPHA:189427
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Adult Krabbe Disease
Erectile dysfunction, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Primary Ciliary Dyskinesia
Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Inte... ORPHA:244
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Macroglossia, Conductive hearing impai... ORPHA:581
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Atopic dermatitis ORPHA:3240
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Erectile dysfunction, Impotence, Abnormal... ORPHA:99027
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Cachexia, Failure to thrive, ... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent sinusitis, Immotile sperm, Absent central microtubular pair morphology ... OMIM:617091
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Cleft palate, High palate, ... ORPHA:401973
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Adrenal hyperplasia, Hyperaldosteronism ORPHA:369929
Familial Male-Limited Precocious Puberty
Male infertility, Acne, Oligospermia ORPHA:3000
Cockayne Syndrome A
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Irregular menstruation, Ab... OMIM:216400
Cockayne Syndrome B
Carious teeth, Delayed eruption of primary teeth, Hypoplasia of teeth, Abnormality of the pinna, ... OMIM:133540
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Macroorchidism, Hyperactive renin-angiotensin system, Incre... ORPHA:90790
Cushing Disease
Adrenal hyperplasia, Premature ovarian insufficiency, Diabetes mellitus, Pituitary adenoma ORPHA:96253
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Delayed eruption of teeth, Narrow mouth, Overfolded helix, Conductive hearing imp... OMIM:300990
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Joint swelling, Dental crowding, Conductive hearing impairment, ... OMIM:618175
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Sensorineural Deafness With Dilated Cardiomyopathy
Hearing impairment, Recurrent infections of the middle ear ORPHA:217622
Bloom Syndrome
Skin rash, Premature ovarian insufficiency, Azoospermia, Oligospermia, Esophageal neoplasm, Uveit... ORPHA:125
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
47,Xyy Syndrome
Low-set ears, Male infertility, Azoospermia, Oligospermia ORPHA:8
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Increased circulating corticosterone ... ORPHA:95699
Classic Galactosemia
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Ascites... ORPHA:79239
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Hearing impairment, Male infertility, Small for gestational age OMIM:227650
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor, Optic n... ORPHA:909
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Noonan Syndrome 1
Lymphedema, Low-set, posteriorly rotated ears, Dental malocclusion, Synovitis, Failure to thrive ... OMIM:163950
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Submucous cleft soft palate, Primary amenorrhea, Hypodontia, P... ORPHA:69085
45,X/46,Xy Mixed Gonadal Dysgenesis
Azoospermia, Chordee, Low-set, posteriorly rotated ears, Recurrent otitis media, Streak ovary, He... ORPHA:1772
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Cystic Fibrosis
Chronic sinusitis, Male infertility, Bronchiectasis, Steatorrhea, Rectal prolapse, Dehydration, I... OMIM:219700
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility, Acne ORPHA:99429
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Male infertility, Eunucho... ORPHA:91
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia ORPHA:79500
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Azoospermia, Primary amenorrhea ORPHA:90797
Cystinosis, Nephropathic
Male infertility, Dehydration, Male hypogonadism, Failure to thrive in infancy OMIM:219800
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Hypergonadotropic hypogonadism, Streak ovary, Primar... ORPHA:251510
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment OMIM:605362

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 Eya4

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 Eya4.

No publications found that use IMPC mice or data for Eya4.

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MGI Allele Allele Type Produced
Eya4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Eya4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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