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Gene: Pex19 MGI:1334458

Gene Summary

Name:

peroxisomal biogenesis factor 19

Synonyms:

peroxisome biogenesis factor 19, Pxf

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	Allele	Zyg	Life Stage
abnormal embryo size	Pex19^em1(IMPC)Bay	HOM	E18.5
microphthalmia	Pex19^em1(IMPC)Bay	HOM	E18.5
preweaning lethality, complete penetrance	Pex19^em1(IMPC)Bay	HOM	Early adult

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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.

MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Pex19 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.

Human diseases associated with Pex19 (4 diseases)
Human diseases predicted to be associated with Pex19 (391 diseases)

The table below shows human diseases associated to Pex19 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neonatal Adrenoleukodystrophy			ORPHA:44
Infantile Refsum Disease			ORPHA:772
Peroxisome Biogenesis Disorder 12A (Zellweger)			OMIM:614886
Zellweger Syndrome			ORPHA:912

The table below shows human diseases predicted to be associated to Pex19 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Intrauterine growth retardation	OMIM:616171
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:195
Cofs Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1466
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation	ORPHA:858
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Pierpont Syndrome	Microphthalmia	OMIM:602342
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	ORPHA:290
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation	OMIM:610756
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Intrauterine growth retardation	OMIM:300863
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Intrauterine growth retardation	ORPHA:163966
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Rodrigues Blindness	Microphthalmia	OMIM:268320
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation	OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 18P	Microphthalmia	ORPHA:1598
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Fetal Alcohol Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1915
Temtamy Syndrome	Microphthalmia	OMIM:218340
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Moebius Syndrome	Microphthalmia	OMIM:157900
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Marden-Walker Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:248700
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele	OMIM:614424
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Refsum Disease	Microphthalmia	ORPHA:773
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Mosaic Trisomy 9	Microphthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:99776
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Fanconi Anemia, Complementation Group F	Microphthalmia, Intrauterine growth retardation	OMIM:603467
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:193
Galloway-Mowat Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:251300
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
1Q21.1 Microdeletion Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:250989
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Intrauterine growth retardation	ORPHA:3380
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Fanconi Anemia, Complementation Group C	Microphthalmia, Intrauterine growth retardation	OMIM:227645
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:223370
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Fryns Syndrome	Microphthalmia	ORPHA:2059
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Pallister-Hall Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:146510
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Fanconi Anemia, Complementation Group L	Microphthalmia, Intrauterine growth retardation	OMIM:614083
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Microphthalmia, Syndromic 9	Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1052
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Intrauterine growth retardation	OMIM:616975
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:620005
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:133540
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Monosomy 13Q14	Microphthalmia, Intrauterine growth retardation	ORPHA:1587
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Fanconi Anemia	Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow...	ORPHA:84
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
22Q11.2 Deletion Syndrome	Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia, Intraute...	ORPHA:567
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia, Umbilical hernia	ORPHA:534
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Intrauterine growth retardation	OMIM:620186
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Myhre Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:139210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine...	OMIM:256520
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia	OMIM:300166
Charge Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:138
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	OMIM:612289
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Fryns Syndrome	Microphthalmia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Cockayne Syndrome	Microphthalmia	ORPHA:191
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta	OMIM:305600
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:619539
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation	OMIM:236680
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Witteveen-Kolk Syndrome	Microphthalmia, Intrauterine growth retardation, Branchial fistula	OMIM:613406
8Q24.3 Microdeletion Syndrome	Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine growth retardation...	ORPHA:508488
Charge Syndrome	Microphthalmia, Anophthalmia, Umbilical hernia, Unilateral microphthalmos	OMIM:214800
Branchiooculofacial Syndrome	Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation	OMIM:113620
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	ORPHA:672
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation	OMIM:268300
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Neonatal Adrenoleukodystrophy		ORPHA:44
Infantile Refsum Disease		ORPHA:772
Zellweger Syndrome		ORPHA:912
Peroxisome Biogenesis Disorder 12A (Zellweger)		OMIM:614886

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 Pex19

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 Pex19.

No publications found that use IMPC mice or data for Pex19.

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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
Pex19^{tm47605(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pex19^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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