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Gene: Med12l MGI:2139916

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Gene Summary

Name:
mediator complex subunit 12-like
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
irregularly shaped pupil Med12lem1(IMPC)J HOM Early adult 2.87×10-06
decreased grip strength Med12lem1(IMPC)J HOM Early adult 6.42×10-05
increased circulating alanine transaminase level Med12lem1(IMPC)J HOM Early adult 1.71×10-09

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.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Med12l 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 Med12l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nizon-Isidor Syndrome
Iris coloboma OMIM:618872

The table below shows human diseases predicted to be associated to Med12l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Facial Spasm
Anisocoria OMIM:134300
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coats Disease
Leukocoria OMIM:300216
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Alexander Disease
Microcoria OMIM:203450
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Uveal Melanoma
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation ORPHA:39044
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... ORPHA:209959
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Triopia
Abnormal pupil morphology, Iris coloboma, Microcornea ORPHA:3374
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Proteus-Like Syndrome
Abnormal pupil morphology, Cataract, Heterochromia iridis, Limbal dermoid ORPHA:2969
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Hyponatremia ORPHA:1764
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis... OMIM:613150
Duane Retraction Syndrome
Abnormal pupil morphology, Central heterochromia, Microcornea, Hypoplastic iris stroma, Iris colo... ORPHA:233
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Mydriasis ORPHA:247815
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Pierson Syndrome
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... OMIM:609049
Intestinal Botulism
Mydriasis ORPHA:178481
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea OMIM:257850
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Ectopia pupillae, Corneal opacity, Hypotriglyceridemia ORPHA:85167
Iatrogenic Botulism
Mydriasis ORPHA:254509
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia ORPHA:178478
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Hyponatremia, Lentiglobus, Hypokalemia, Hypophosphatemia, Buphthalmos,... ORPHA:534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Elevated c... OMIM:175780
Botulism
Mydriasis ORPHA:1267
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Foodborne Botulism
Mydriasis ORPHA:228371
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract ORPHA:2714
Trichinellosis
Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis ORPHA:863
Knobloch Syndrome 1
Iris transillumination defect, Developmental cataract, Lens subluxation, Chorioretinal atrophy, B... OMIM:267750
Norrie Disease
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... ORPHA:649
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Scalp-Ear-Nipple Syndrome
Anisocoria, Iris coloboma, Developmental cataract, Cataract OMIM:181270
Retinoblastoma
Leukocoria, Heterochromia iridis, Hypopyon, Uveitis ORPHA:790
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Mydriasis OMIM:259720
Pituitary Apoplexy
Mydriasis, Hyponatremia ORPHA:95613
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Serotonin Syndrome
Mydriasis ORPHA:43116
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Retinoblastoma
Leukocoria OMIM:180200
Arachnoid Cyst
Mydriasis ORPHA:2356
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Cocaine Intoxication
Mydriasis, Elevated circulating creatine kinase concentration ORPHA:90068
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Mydriasis, Increased circulating N... ORPHA:466677
Wolf-Hirschhorn Syndrome
Iris coloboma, Rieger anomaly, Ectopia pupillae OMIM:194190
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Axenfeld anomaly, Microcornea, Astigmatism, Iris coloboma, Cataract, I... ORPHA:261552
Mowat-Wilson Syndrome
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae OMIM:235730
Witteveen-Kolk Syndrome
Anisocoria, Iris coloboma, Cataract OMIM:613406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Hypokalemia, Keratoconus ORPHA:286
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Nizon-Isidor Syndrome
Iris coloboma OMIM:618872

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 Med12l

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 Med12l.

No publications found that use IMPC mice or data for Med12l.

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MGI Allele Allele Type Produced
Med12ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Med12ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Med12ltm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Med12lem1(IMPC)J Exon Deletion Mice

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