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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	P Value
preweaning lethality, complete penetrance	Pex19^em1(IMPC)Bay	HOM	Early adult	0.00
microphthalmia	Pex19^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal embryo size	Pex19^em1(IMPC)Bay	HOM	E18.5	0.00
decreased exploration in new environment	Pex19^em1(IMPC)Bay	HET	Early adult	8.07×10^-09

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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 (395 diseases)

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

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

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	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:616570
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
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
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	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	Intrauterine growth retardation, Microphthalmia	OMIM:616171
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:195
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia	OMIM:613885
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Congenital Toxoplasmosis	Intrauterine growth retardation, Microphthalmia	ORPHA:858
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Pierpont Syndrome	Microphthalmia	OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Congenital Rubella Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia	OMIM:610756
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia	OMIM:300863
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Trisomy 13	Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:3378
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:228390
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Matthew-Wood Syndrome	Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:2470
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:618804
Hydrolethalus	Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia	ORPHA:163966
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:494344
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Rodrigues Blindness	Microphthalmia	OMIM:268320
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Microphthalmia	OMIM:616395
Monosomy 18P	Microphthalmia	ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Temtamy Syndrome	Microphthalmia	OMIM:218340
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1915
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Moebius Syndrome	Microphthalmia	OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia	ORPHA:2728
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:248700
Joubert Syndrome 14	Meningocele, Encephalocele, Microphthalmia	OMIM:614424
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
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
Micro Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2510
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Refsum Disease	Microphthalmia	ORPHA:773
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Frontonasal Dysplasia 2	Intrauterine growth retardation, Encephalocele, Microphthalmia	OMIM:613451
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:251230
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Vacterl With Hydrocephalus	Intrauterine growth retardation, Spina bifida, Anophthalmia, Microphthalmia	ORPHA:3412
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Mosaic Trisomy 9	Intrauterine growth retardation, Spina bifida, Microphthalmia	ORPHA:99776
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Microphthalmia	OMIM:603467
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:617729
Cohen Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:251300
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:250989
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia	ORPHA:2092
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Trisomy 18	Intrauterine growth retardation, Anencephaly, Spina bifida, Microphthalmia	ORPHA:3380
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:364577
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Microphthalmia	OMIM:227645
Jacobsen Syndrome	Macular hypoplasia, Intrauterine growth retardation, Microphthalmia	OMIM:147791
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2162
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Dubowitz Syndrome	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:223370
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Fryns Syndrome	Microphthalmia	ORPHA:2059
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Microphthalmia, Syndromic 9	Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Microphthalmia	OMIM:614083
Pallister-Hall Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Anencephaly	ORPHA:564
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1052
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Cockayne Syndrome B	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:133540
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:620005
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Microphthalmia	OMIM:616975
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Fanconi Anemia	Umbilical hernia, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Spina bifida, ...	ORPHA:84
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia	ORPHA:1587
Histiocytoid Cardiomyopathy	Congenital aphakia, Microphthalmia	ORPHA:137675
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Aicardi Syndrome	Spina bifida, Microphthalmia	OMIM:304050
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Meningocele	ORPHA:567
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Microphthalmia, Anencep...	OMIM:249000
Myhre Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:139210
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Buphthalmos, Umbilical hernia	ORPHA:534
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia	OMIM:608670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Intrauterine growth retardation, Branchial cyst, Microphthalmia	OMIM:620186
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Aicardi Syndrome	Microphthalmia	ORPHA:50
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia	OMIM:300166
Mend Syndrome	Microphthalmia	ORPHA:401973
Monosomy 9P	Microphthalmia	ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Charge Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Umbilical hernia	ORPHA:138
Degcags Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:619488
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Spina bif...	OMIM:256520
Cockayne Syndrome	Microphthalmia	ORPHA:191
Fontaine Progeroid Syndrome	Microphthalmia, Intrauterine growth retardation, Umbilical hernia	OMIM:612289
Fryns Syndrome	Microphthalmia	OMIM:229850
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia, Umbilical hernia	OMIM:619539
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Anencephaly, Microphthalmia	OMIM:236680
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Witteveen-Kolk Syndrome	Intrauterine growth retardation, Branchial fistula, Microphthalmia	OMIM:613406
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Fraser Syndrome 1	Myelomeningocele, Bilateral microphthalmos, Encephalocele, Anophthalmia	OMIM:219000
Charge Syndrome	Microphthalmia, Unilateral microphthalmos, Anophthalmia, Umbilical hernia	OMIM:214800
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Intrauterine growth retardation, Spina bifida occulta, ...	ORPHA:508488
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Pallister-Hall Syndrome	Microphthalmia, Intrauterine growth retardation, Umbilical hernia	ORPHA:672
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	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
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	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	Anophthalmia, Microphthalmia	OMIM:309800
Zellweger Syndrome	Cognitive impairment	ORPHA:912
Neonatal Adrenoleukodystrophy		ORPHA:44
Infantile Refsum Disease		ORPHA:772
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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