Gene Summary

Name:
mediator complex subunit 13-like
Synonyms:
2210413I17Rik,  9030618F05Rik,  Trap240L,  Thrap2,  6330591G05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Med13lem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Med13lem1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Med13lem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Med13lem1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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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 E14.5-E15.5

Embryo reconstruction

8 Images

Human diseases caused by Med13l 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.

The table below shows human diseases associated to Med13l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia, Short stature ORPHA:369891
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
OMIM:616789

The table below shows human diseases predicted to be associated to Med13l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 2
Microphthalmia OMIM:609549
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Microphthalmia ORPHA:2528
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Biemond Syndrome Type 2
Short stature, Delayed puberty, Microphthalmia ORPHA:141333
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Mmep Syndrome
Microphthalmia ORPHA:3434
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Short stature, Microphthalmia OMIM:617914
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/H... ORPHA:137902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Meckel Syndrome, Type 8
Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Hartsfield Syndrome
Encephalocele, Intrauterine growth retardation, Microphthalmia ORPHA:2117
Craniotelencephalic Dysplasia
Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly, Microphthalmia ORPHA:1528
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Intrauterine growth retardation, Microphthalmia OMIM:610756
Congenital Rubella Syndrome
Short stature, Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia ORPHA:290
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Seckel Syndrome 2
Growth delay, Short stature, Microphthalmia OMIM:606744
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Intrauterine growth retardation, Microphthalmia OMIM:300863
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Short stature OMIM:619318
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Meningocele, Encephalocele, Intrauterine growth retardation OMIM:603194
Pierpont Syndrome
Microphthalmia ORPHA:487825
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Short stature, Mild short stature, Microphthalmia OMIM:614833
Bresek Syndrome
Optic nerve hypoplasia, Intrauterine growth retardation, Growth delay, Microphthalmia ORPHA:85284
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Growth delay, Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Microphthalmia ORPHA:93267
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:163966
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Meningocele, Encephalocele, Intrauterine growth retardation OMIM:611134
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Spondylo-Ocular Syndrome
Disproportionate short-trunk short stature, Short stature, Aplasia/Hypoplasia of the lens, Microp... ORPHA:85194
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Trisomy 13
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Joubert Syndrome 14
Growth delay, Encephalocele, Microphthalmia OMIM:614424
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Intrauterine growth retardation, Microphthalmia ORPHA:228390
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida occulta, Microphthalmia OMIM:169550
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia OMIM:610125
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Anophthalmia, Growth delay, Microphthalmia OMIM:206920
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Fetal Alcohol Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Short stature, Intrauterine growth retardation, Microphthalmia OMIM:609053
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia ORPHA:494344
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia ORPHA:2728
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Hydrolethalus
Anencephaly, Anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:2189
Trichothiodystrophy 3, Photosensitive
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616395
Coloboma, Ocular, Autosomal Dominant
Growth delay, Optic nerve aplasia, Microphthalmia OMIM:120200
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Short stature, Microphthalmia OMIM:243310
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Intrauterine growth retardation, Microphthalmia OMIM:600123
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lens coloboma, Microphthalmia OMIM:618914
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Gracile Bone Dysplasia
Short stature, Aniridia, Microphthalmia OMIM:602361
Frontofacionasal Dysplasia
Encephalocele, Short stature, Microphthalmia ORPHA:1791
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Short stature, Microphthalmia OMIM:615663
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos, Ethmoidal encephalocele OMIM:607597
Marden-Walker Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:248700
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia ORPHA:370959
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Micro Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:2510
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Umbilical hernia, Microphthalmia ORPHA:2505
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia, Short stature ORPHA:369891
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Microphthalmia ORPHA:35173
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Oculo-Palato-Cerebral Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:2714
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Refsum Disease
Microphthalmia ORPHA:773
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Microphthalmia OMIM:613451
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Fanconi Anemia, Complementation Group F
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:603467
Frontorhiny
Encephalocele, Cranium bifidum occultum, Basal encephalocele, Microphthalmia ORPHA:391474
Vacterl With Hydrocephalus
Anophthalmia, Arrhinencephaly, Microphthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Anencephaly, Microphthalmia OMIM:619148
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Galloway-Mowat Syndrome 3
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Cohen Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia ORPHA:193
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Rhizomelia, Microphthalmia OMIM:302960
Martsolf Syndrome 1
Short stature, Microphthalmia OMIM:212720
Pelvis-Shoulder Dysplasia
Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shortening, Hydranen... ORPHA:2839
Microphthalmia, Syndromic 3
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Postnatal growth retardation... OMIM:206900
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Mosaic Trisomy 9
Spina bifida, Intrauterine growth retardation, Microphthalmia ORPHA:99776
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Cousin Syndrome
Rhizomelia, Hydranencephaly, Disproportionate short stature, Microphthalmia OMIM:260660
Trisomy 18
Short stature, Anencephaly, Microphthalmia, Growth delay, Spina bifida, Intrauterine growth retar... ORPHA:3380
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Subaortic Stenosis--Short Stature Syndrome
Growth delay, Microphthalmia OMIM:271960
Galloway-Mowat Syndrome 1
Short stature, Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:251300
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia OMIM:601675
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
1Q21.1 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:250989
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:227645
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Dubowitz Syndrome
Short stature, Hypoplasia of the iris, Microphthalmia, Postnatal growth retardation, Intrauterine... OMIM:223370
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Encephalocele, Microphthalmia OMIM:614643
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Short stature OMIM:601186
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Severe short stature, Microphthalmia ORPHA:85167
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Spina bifida occulta, Macular hypoplasia OMIM:612109
Fanconi Anemia, Complementation Group E
Short stature, Microphthalmia OMIM:600901
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Short stature OMIM:618874
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Jacobsen Syndrome
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Microphthalmia OMIM:616300
Papillorenal Syndrome
Short stature, Microphthalmia OMIM:120330
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Buphthalmos, Optic nerve hypoplasia, Meningoencephalocele, Occipital encephalocele OMIM:236670
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Spina bifida occulta, Microphthalmia OMIM:607323
Fanconi Anemia, Complementation Group A
Short stature, Microphthalmia OMIM:227650
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Microphthalmia OMIM:614083
Cat Eye Syndrome
Short stature, Umbilical hernia, Microphthalmia OMIM:115470
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Kenny-Caffey Syndrome, Type 2
Short stature, Severe short stature, Microphthalmia OMIM:127000
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Incontinentia Pigmenti
Short stature, Spina bifida occulta, Umbilical hernia, Microphthalmia ORPHA:464
Teebi-Shaltout Syndrome
Short stature, Microphthalmia OMIM:272950
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Pallister-Hall Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:146510
Mosaic Variegated Aneuploidy Syndrome
Growth delay, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1052
Monosomy 13Q14
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1587
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Holoprosencephaly
Microphthalmia, Anophthalmia, Spinal dysraphism, Branchial anomaly, Encephalocele ORPHA:2162
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Microphthalmia OMIM:234100
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Short stature, Bilateral microphthalmos, Postnatal growth retardation, Intrauterine... ORPHA:93325
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Incontinentia Pigmenti
Short stature, Hypoplasia of the fovea, Microphthalmia OMIM:308300
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fryns Syndrome
Microphthalmia ORPHA:2059
Cockayne Syndrome B
Severe short stature, Hypoplasia of the iris, Microphthalmia, Postnatal growth retardation, Intra... OMIM:133540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:620005
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616975
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Short stature, Spina bifida, Microphthalmia ORPHA:508498
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:2538
Isolated Arrhinia
Microphthalmia ORPHA:1134
Monosomy 9Q22.3
Umbilical hernia, Microphthalmia ORPHA:77301
Fanconi Anemia
Short stature, Umbilical hernia, Microphthalmia, Growth delay, Aplasia/Hypoplasia of the iris, In... ORPHA:84
Basal Cell Nevus Syndrome
Spina bifida, Microphthalmia OMIM:109400
Meckel Syndrome
Anencephaly, Anophthalmia, Microphthalmia, Encephalocele, Aplasia/Hypoplasia of the iris ORPHA:564
Roberts Syndrome
Severe intrauterine growth retardation, Postnatal growth retardation, Microphthalmia ORPHA:3103
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Short stature, Microphthalmia OMIM:227646
Holoprosencephaly 9
Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia OMIM:610829
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Myhre Syndrome
Intrauterine growth retardation, Short stature, Birth length less than 3rd percentile, Microphtha... OMIM:139210
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Hallermann-Streiff Syndrome
Proportionate short stature, Microphthalmia ORPHA:2108
22Q11.2 Deletion Syndrome
Short stature, Arrhinencephaly, Meningocele, Umbilical hernia, Microphthalmia, Spina bifida, Intr... ORPHA:567
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Aicardi Syndrome
Postnatal growth retardation, Spina bifida, Microphthalmia OMIM:304050
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Umbilical hernia, Microphthalmia ORPHA:2166
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microphthalmia ORPHA:861
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Severe short stature, Intrauterine growth retardation, Bilateral micropht... ORPHA:468631
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation, Large plac... OMIM:249000
Charge Syndrome
Short stature, Anophthalmia, Delayed puberty, Microphthalmia, Postnatal growth retardation, Intra... ORPHA:138
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Microphthalmia ORPHA:2526
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microphthalmia OMIM:309801
Mend Syndrome
Short stature, Microphthalmia ORPHA:401973
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Small placenta, Microphthalmia, Spina bifida, Intrauterine... OMIM:256520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Microphthalmia ORPHA:90324
Microphthalmia With Limb Anomalies
Short stature, True anophthalmia, Arrhinencephaly, Microphthalmia ORPHA:1106
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Cockayne Syndrome
Postnatal growth retardation, Severe short stature, Delayed puberty, Microphthalmia, Growth delay ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Short stature, Buphthalmos, Delayed puberty, Umbilical hernia ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Severe short stature, Anophthalmia, Microphthalmia ORPHA:2556
Steinfeld Syndrome
Microphthalmia OMIM:184705
Chromosome 13Q14 Deletion Syndrome
Growth delay, Umbilical hernia, Microphthalmia OMIM:613884
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Microphthalmia, Syndromic 2
Phthisis bulbi, Short stature, Anophthalmia, Umbilical hernia, Microphthalmia OMIM:300166
Fontaine Progeroid Syndrome
Short stature, Intrauterine growth retardation, Umbilical hernia, Microphthalmia OMIM:612289
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:619488
Focal Dermal Hypoplasia
Myelomeningocele, Short stature, Anophthalmia, Spina bifida occulta, Umbilical hernia, Microphtha... OMIM:305600
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Anencephaly, Arrhinencephaly, Microphthalmia OMIM:236680
Yunis-Varon Syndrome
Short stature, Arrhinencephaly, Bilateral microphthalmos, Microphthalmia, Postnatal growth retard... ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Fryns Syndrome
Arrhinencephaly, Microphthalmia OMIM:229850
Monosomy 9P
Microphthalmia ORPHA:261112
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Fraser Syndrome
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele ORPHA:2052
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Neuroocular Syndrome
Short stature, Hypoplasia of the fovea, Umbilical hernia, Microphthalmia, Lens coloboma OMIM:619539
Witteveen-Kolk Syndrome
Short stature, Branchial fistula, Microphthalmia, Growth delay, Intrauterine growth retardation OMIM:613406
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia OMIM:309000
Charge Syndrome
Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Umbilical hernia, Microphthalmia, Delay... OMIM:214800
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Branchial anomaly, Postnatal growth retardation, Intrauterine growt... OMIM:113620
Pallister-Hall Syndrome
Short stature, Arrhinencephaly, Umbilical hernia, Microphthalmia, Intrauterine growth retardation ORPHA:672
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Norrie Disease
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Delayed puberty, Microphthalmia ORPHA:649
Fraser Syndrome 1
Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Postnatal growth retardation, Frontal encephalocele, Micr... OMIM:268300
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Townes-Brocks Syndrome
Short stature, Delayed puberty, Microphthalmia ORPHA:857
Mowat-Wilson Syndrome
Short stature, Microphthalmia OMIM:235730
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Growth delay, Short stature, Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Microphthalmia ORPHA:261537
8Q24.3 Microdeletion Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida occulta, Infancy onset short-trunk short stat... ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Microphthalmia ORPHA:261552
Craniofacial Microsomia
Occipital encephalocele, Anophthalmia, Branchial anomaly, Microphthalmia OMIM:164210
Microphthalmia, Syndromic 1
Growth delay, Anophthalmia, Microphthalmia OMIM:309800
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
OMIM:616789

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 Med13l

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 Med13l.

No publications found that use IMPC mice or data for Med13l.

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MGI Allele Allele Type Produced
Med13lem1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Med13ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Med13ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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