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Gene: Ubn2 MGI:2444236

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Gene Summary

Name:
ubinuclein 2
Synonyms:
D130059P03Rik,  2900060J04Rik,  6030408G03Rik

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
preweaning lethality, incomplete penetrance Ubn2em1(IMPC)Tcp HOM   Early adult 0.00
decreased exploration in new environment Ubn2em1(IMPC)Tcp HET Early adult 1.07×10-08
abnormal facial morphology Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal head size Ubn2em1(IMPC)Tcp HOM E18.5 0.00
male infertility Ubn2em1(IMPC)Tcp HOM Early adult 0.00
abnormal embryo size Ubn2em1(IMPC)Tcp HOM E18.5 0.00
cataract Ubn2em1(IMPC)Tcp HET   Early adult 6.88×10-05
anophthalmia Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal head shape Ubn2em1(IMPC)Tcp HOM E18.5 0.00
decreased mean corpuscular hemoglobin Ubn2em1(IMPC)Tcp HET Early adult 5.73×10-05

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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.

Gross Morphology Embryo E18.5

Images

51 Images

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Eye Morphology

Images Slit Lamp

118 Images

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Eye Morphology

Images Ophthalmoscopy

127 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ubn2 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 Ubn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Trichomegaly
Cataract OMIM:190330
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Bardet-Biedl Syndrome 18
Cognitive impairment, Cataract OMIM:615995
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Alpha-Thalassemia
Cognitive impairment, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia... ORPHA:846
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Miller-Dieker syndrome (MDS)
Frontal bossing, Midface retrusion, Microcephaly DECIPHER:21
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Galactosemia Iv
Cataract OMIM:618881
X-Linked Retinoschisis
Cataract ORPHA:792
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Microcephaly OMIM:613885
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Galactosemia Ii
Cataract OMIM:230200
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 47
Microcornea, Cataract OMIM:612018
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Microcephaly, Brachycephaly ORPHA:2898
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Adenylosuccinate Lyase Deficiency
Flat occiput, Prominent metopic ridge, Microcephaly, Brachycephaly ORPHA:46
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Anencephaly 2
Anophthalmia OMIM:619452
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput, Microcephaly ORPHA:1665
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly, Brachycephaly ORPHA:2528
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Vacuolated lymphocytes, Cataract, Psychomotor deterioration, Anxiety OMIM:204200
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Aniridia 2
Aniridia, Cataract OMIM:617141
Morm Syndrome
Aggressive behavior, Cataract ORPHA:75858
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Trisomy 13
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Ab... ORPHA:3378
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Nathalie Syndrome
Cataract OMIM:255990
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Non-Distal Trisomy 10Q
Frontal bossing, Aplasia/Hypoplasia affecting the eye, Microcephaly, Brachycephaly ORPHA:1695
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Optic nerve hypoplasia, ... OMIM:618736
Cataract 11, Multiple Types
Cataract OMIM:610623
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly ORPHA:66625
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Microcytic anemia, Thrombocytopenia ORPHA:848
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Norrie Disease
Dementia, Shallow anterior chamber, Hypoplasia of the iris, Aggressive behavior, Cataract, Opacif... OMIM:310600
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Irritability, Cataract, Anxiety OMIM:261600
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Microphthalmia OMIM:206920
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... OMIM:614188
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... OMIM:616602
Usher Syndrome Type 3
Anxiety, Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 43
Subcapsular cataract OMIM:616279
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia, Microcephaly OMIM:147250
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Frontal bossing, Microcephaly OMIM:206900
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia, Microcephaly ORPHA:139471
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Cerebrooculonasal Syndrome
Brachycephaly, Anophthalmia, Craniosynostosis, Proboscis, Frontal bossing OMIM:605627
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Craniosynostosis 4
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Optic nerve hypoplasia, Fronta... OMIM:600775
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly OMIM:612247
Matthew-Wood Syndrome
Anophthalmia, Intrauterine growth retardation, Microphthalmia ORPHA:2470
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Thin calvarium, Microcephaly, Brachycephaly OMIM:122900
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Pellagra-Like Syndrome
Cataract OMIM:260650
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Microcephaly OMIM:617768
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Anophthalmia, Aniridia, Dolichocephaly, Umbilical hernia ORPHA:1101
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cockayne Syndrome Type 2
Anophthalmia, Intrauterine growth retardation ORPHA:90322
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Midface retrusion, Dolichocephaly OMIM:618774
Menkes Disease
Intrauterine growth retardation, Wormian bones, Microcephaly, Brachycephaly OMIM:309400
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Microcephaly ORPHA:899
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Classic Phenylketonuria
Self-injurious behavior, Cataract, Mental deterioration, Motor deterioration, Memory impairment ORPHA:79254
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Monilethrix
Cognitive impairment, Cataract ORPHA:573
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Trisomy 1Q
Frontal bossing, Anophthalmia ORPHA:261344
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Midface retrusion OMIM:218350
Frontonasal Dysplasia 3
Microphthalmia, Brachycephaly OMIM:613456
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Bresek Syndrome
Plagiocephaly, Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Microcephaly ORPHA:85284
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
Holoprosencephaly
Flat occiput, Microphthalmia, Anophthalmia, Frontal bossing, Branchial anomaly, Spinal dysraphism... ORPHA:2162
Fetal Trimethadione Syndrome
Midface retrusion, Intrauterine growth retardation, Microcephaly, Brachycephaly ORPHA:1913
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Intrauterine growth retardation OMIM:601186
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Vacterl With Hydrocephalus
Anophthalmia, Intrauterine growth retardation, Spina bifida, Microphthalmia ORPHA:3412
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Coronal craniosy... ORPHA:228390
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Brachycephaly ORPHA:314575
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Midface retrusion, Microcephaly OMIM:610829
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Craniosynostosis, Trigonocephaly OMIM:618265
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia, Brachycephaly ORPHA:264200
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Anophthalmia, Microphthalmia, Frontal bossing ORPHA:2538
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hypersplenism, Hepatosp... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cdags Syndrome
Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closure, Coronal cranio... OMIM:603116
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Acquired Methemoglobinemia
Anxiety, Methemoglobinemia ORPHA:464453
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... ORPHA:79239
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:236410
Craniofacial Microsomia
Anophthalmia, Branchial anomaly, Microphthalmia OMIM:164210
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cranial asymmetry, Delayed closure of the anterior fontanelle, Scaphocephaly, Wide anterior fonta... OMIM:614886
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Wormian bones, Midface retrusion, ... OMIM:618644
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Midface retrusion, Microphthalmia, Microcephaly ORPHA:2556
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Meckel Syndrome
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris, Microcephaly ORPHA:564
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Joubert Syndrome 21
Anophthalmia OMIM:615636
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Fraser Syndrome 1
Myelomeningocele, Anophthalmia, Microcephaly, Bilateral microphthalmos, Calvarial skull defect OMIM:219000
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Cataract, Mental deterioration, Corneal neovascularization... OMIM:278730
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Craniosynostosis, Microcephaly, Brachycephaly ORPHA:2163
Warburg Micro Syndrome 2
Secondary microcephaly, Microphthalmia, Microcephaly, Brachycephaly OMIM:614225
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Fraser Syndrome
Microphthalmia, Myelomeningocele, Anophthalmia, Microcephaly, Umbilical hernia, Calvarial skull d... ORPHA:2052
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia, Microcephaly ORPHA:2526
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Proboscis ORPHA:141099
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Microphthalmia, Syndromic 6
Plagiocephaly, Microphthalmia, Brachycephaly, Anophthalmia, Midface retrusion, Microcephaly, Lamb... OMIM:607932
Charge Syndrome
Anophthalmia, Intrauterine growth retardation, Microphthalmia, Microcephaly ORPHA:138
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Microphthalmia, Biparietal narrowing, Frontal bossing, Prominent occiput ORPHA:2612
Focal Dermal Hypoplasia
Microphthalmia, Myelomeningocele, Anophthalmia, Aniridia, Spina bifida occulta, Umbilical hernia,... OMIM:305600
Crouzon Syndrome
Brachycephaly, Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal c... OMIM:123500
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Cognitive impairment, Anemia, Memory... ORPHA:330015
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Microphthalmia, Syndromic 2
Anophthalmia, Microphthalmia, Umbilical hernia, Microcephaly OMIM:300166
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Abnormal hemoglobin, Anemia ORPHA:847
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Branchiooculofacial Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Branchial anomaly, Dolichocephaly,... OMIM:113620
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... ORPHA:85199
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Brachycephaly, Rieger anomaly, Prominent metopic ridge, Microcephaly ORPHA:521445
Humeroradial Synostosis
Brachycephaly OMIM:236400
Microphthalmia With Limb Anomalies
Frontal bossing, Microphthalmia, True anophthalmia ORPHA:1106
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
47,Xyy Syndrome
Oligospermia, Male infertility, Azoospermia ORPHA:8
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Umbilical hernia, Microcephaly OMIM:214800
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Saethre-Chotzen Syndrome
Plagiocephaly, Buphthalmos, Brachycephaly, Skull asymmetry, Oxycephaly, Parietal foramina, Corona... OMIM:101400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Frontofacionasal Dysplasia
Midface retrusion, Microphthalmia, Hypoplasia of the frontal bone, Brachycephaly OMIM:229400
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia, Microcephaly OMIM:309800
Opitz Gbbb Syndrome, Type Ii
Frontal bossing, Craniosynostosis, Umbilical hernia, Cranial asymmetry OMIM:145410
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Streak ovary, Azoospermia ORPHA:1772
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Thickened calvaria, Intrauterine growth retardation, Cran... ORPHA:3455
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Hypogonadism, Male infertility OMIM:163950

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 Ubn2

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 Ubn2.

No publications found that use IMPC mice or data for Ubn2.

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MGI Allele Allele Type Produced
Ubn2em1(IMPC)Tcp Exon Deletion Mice
Ubn2tm210826(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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