Gene Summary

Name:
basic leucine zipper and W2 domains 1
Synonyms:
1200015E15Rik

IMPC Data Collections

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
male infertility Bzw1em1(IMPC)J HOM Early adult 0.00
cataract Bzw1em1(IMPC)J HOM Early adult 3.19×10-05
persistence of hyaloid vascular system Bzw1em1(IMPC)J HOM   Early adult 9.47×10-05
hyperactivity Bzw1em1(IMPC)J HOM   Early adult 7.06×10-07
abnormal auditory brainstem response Bzw1em1(IMPC)J HOM   Early adult 4.72×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Bzw1 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 Bzw1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Hearing impairment, Cataract OMIM:300719
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment, Progressive cataract OMIM:120040
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract, Chorioretinal coloboma OMIM:274205
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spastic Paraparesis And Deafness
Hearing impairment, Cataract, Hypogonadism OMIM:312910
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract OMIM:165300
Aniridia 3
Cataract OMIM:617142
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Immunodeficiency 8
Hyperactivity OMIM:615401
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Morm Syndrome
Retinal atrophy, Hyperactivity, Cataract ORPHA:75858
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Trichomegaly
Cataract OMIM:190330
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Chorio... ORPHA:231736
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Hypoplasia of the antihelix, Cataract, Hearing impairment, Chorior... ORPHA:2489
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Nathalie Syndrome
Hearing impairment, Cataract OMIM:255990
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Galactosemia Iv
Cataract OMIM:618881
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Iris coloboma, Cataract, Macular atrophy, Chorioretinal coloboma OMIM:212550
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Hypsarrhythmia OMIM:619970
Wagner Vitreoretinopathy
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... OMIM:143200
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment ORPHA:190
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract, Macrotia OMIM:619420
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hearing impairment, Hyperactivity OMIM:248510
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Coloboma OMIM:120433
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Coloboma OMIM:274270
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Familial Male-Limited Precocious Puberty
Oligospermia, Attention deficit hyperactivity disorder, Male infertility ORPHA:3000
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy OMIM:611131
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Geographic atrophy, Optic disc pallor, Ca... OMIM:619260
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity OMIM:239500
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract OMIM:616468
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Retinal detachment, Cataract, Snowflake vitreoretinal degeneration OMIM:193230
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment ORPHA:3233
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Optic disc pallor, Cataract, Macular atrophy OMIM:614500
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Cataract 47
Cataract, Microcornea OMIM:612018
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Decreased fertility ORPHA:2410
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Leber Congenital Amaurosis 8
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma OMIM:613835
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Hearing impairment, Cataract, Developmental cataract OMIM:614482
Phenylketonuria
Attention deficit hyperactivity disorder, Cataract, Hyperactivity, Blue irides OMIM:261600
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Hypogonadism OMIM:601794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal... OMIM:310600
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Hypogonadism ORPHA:363741
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... ORPHA:98818
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Optic Atrophy 11
Facial diplegia, Hyperactivity, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Subcapsular cataract, Decreased nerve conduction velocity, Opti... OMIM:612674
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, EEG abnormality, Hyperactivity ORPHA:411515
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... ORPHA:206443
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Abnormal autonomic nervous system... OMIM:256800
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, Retinal degenera... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Macrotia, Cataract, Leukocoria, Thic... ORPHA:2714
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Pigmentary retinopathy, Optic atrophy, Cataract, Male hypogo... ORPHA:90321
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmen... OMIM:268315
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Oculoauricular Syndrome
Absent earlobe, Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microco... OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Microtia, Optic nerve hypoplasia, Retinal detachment, Pe... OMIM:614643
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... ORPHA:649
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physiology, Orthos... ORPHA:99027
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
47,Xyy Syndrome
Hyperactivity, Oligospermia, Male infertility, Attention deficit hyperactivity disorder, Azoosper... ORPHA:8
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Alport Syndrome 2, Autosomal Recessive
Hearing impairment, Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave complexes, E... OMIM:619913
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract OMIM:263100
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Xeroderma Pigmentosum, Complementation Group B
Sensorineural hearing impairment, Decreased nerve conduction velocity, Pigmentary retinopathy, Op... OMIM:610651
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Mend Syndrome
Low-set ears, Hyperactivity, Cataract, Abnormal auditory evoked potentials ORPHA:401973
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Coloboma OMIM:610125
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Neurofibromatosis Type 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Bilateral vestibular s... ORPHA:637
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Abnormal cornea morphology, Male infertility OMIM:244400
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Cupped ear, Unilateral deafn... OMIM:619539
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Primary Ciliary Dyskinesia
Conductive hearing impairment, Female infertility, Male infertility, Hearing impairment, Abnormal... ORPHA:244
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Legius Syndrome
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Cataract, Hearing... ORPHA:137605
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Cupped ear, Retinal de... OMIM:300166
Histidinemia
Hyperactivity ORPHA:2157
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Male infertility ORPHA:90797
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Hearing impairment, Male infertility OMIM:227650
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Male infertility, Male hypogonadism, Decreased fertility ORPHA:90793
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Primary amenorrhea, Male infertility ORPHA:91
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Chorioretinal coloboma OMIM:157170
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Streak ovary, Low-set, posteriorly rotated ears, Male infertility, Developmental glaucom... ORPHA:1772
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Recurrent corneal erosions, Pigmentary retinopathy, Corneal ... OMIM:219800
Bloom Syndrome
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency ORPHA:125
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased fertility in females,... ORPHA:251510
Noonan Syndrome 1
Sensorineural hearing impairment, Low-set ears, Male infertility, Hypogonadism, Hearing impairment OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700

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 Bzw1

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 Bzw1.

No publications found that use IMPC mice or data for Bzw1.

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MGI Allele Allele Type Produced
Bzw1em1(IMPC)J Exon Deletion Mice

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