banner
Genes Phenotypes Help, News, Blog

Gene: Bzw1 MGI:1914132

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal auditory brainstem response Bzw1em1(IMPC)J HOM   Early adult 4.59×10-05
cataract Bzw1em1(IMPC)J HOM Early adult 2.48×10-05
male infertility Bzw1em1(IMPC)J HOM Early adult 0.00
hyperactivity Bzw1em1(IMPC)J HOM   Early adult 7.06×10-07

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 Forepaw

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View 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
Cataract, Infertility, Hearing impairment OMIM:300719
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract, Hearing impairment OMIM:120040
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Spermatogenic Failure 17
Male infertility OMIM:617214
Cataract 29
Cataract OMIM:115800
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract 35
Cataract OMIM:609376
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spastic Paraparesis And Deafness
Cataract, Hypogonadism, Hearing impairment OMIM:312910
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
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 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Cataract 42
Cataract, Developmental cataract OMIM:115900
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Trichomegaly
Cataract OMIM:190330
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Nathalie Syndrome
Cataract, Hearing impairment OMIM:255990
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Galactosemia Iv
Cataract OMIM:618881
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Abnormal antihelix morphology, Hypoplasia of the antihelix, Hearing imp... ORPHA:2489
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Galactosemia Ii
Cataract OMIM:230200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... OMIM:261600
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Cataract 47
Microcornea, Cataract OMIM:612018
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Hearing impairment OMIM:120433
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Posterior embryotoxon... ORPHA:1473
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased fertility, Primary amenorrhea ORPHA:2410
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... ORPHA:231183
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia, Iris hypopigmentation ORPHA:411515
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, ... OMIM:310600
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials OMIM:619260
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Classic Galactosemia
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... ORPHA:79239
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Uplifted earlobe, Impulsivity OMIM:300143
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, A... OMIM:256800
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, S... OMIM:612674
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Atten... ORPHA:8
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... ORPHA:163681
Transketolase Deficiency
Cataract, Secondary amenorrhea, Self-injurious behavior, Conjunctivitis, Attention deficit hypera... ORPHA:488618
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Iris coloboma, Cataract, Lens subluxation OMIM:216820
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529799
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Low-set ears, An... OMIM:612469
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Cryptorchidism, Optic atrophy, Conjunctivitis, Mal... ORPHA:90321
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Mend Syndrome
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism... ORPHA:401973
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract ORPHA:35737
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Hearing impairment, Anterior lenticonus OMIM:203780
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Dysp... OMIM:308940
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Oculoauricular Syndrome
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... OMIM:612109
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic at... ORPHA:79330
Ciliary Dyskinesia, Primary, 1
Male infertility, Conductive hearing impairment, Abnormal cornea morphology OMIM:244400
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... ORPHA:649
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Conductive hearing impairment, Abnormal sperm motility, Hea... ORPHA:244
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Histidinemia
Hyperactivity ORPHA:2157
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment OMIM:227650
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... ORPHA:1772
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Cystinosis, Nephropathic
Male infertility, Oral-pharyngeal dysphagia, Dysphagia, Recurrent corneal erosions, Corneal cryst... OMIM:219800

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter