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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
decreased grip strength Med12lem1(IMPC)J HOM Early adult 6.43×10-05
increased circulating alanine transaminase level Med12lem1(IMPC)J HOM Early adult 1.71×10-09
irregularly shaped pupil Med12lem1(IMPC)J HOM Early adult 3.35×10-06

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
Autosomal Dominant Non-Syndromic Intellectual Disability
ORPHA:178469

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, Developmental cataract, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... 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
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Facial Spasm
Anisocoria OMIM:134300
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coats Disease
Leukocoria OMIM:300216
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Alexander Disease
Microcoria OMIM:203450
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Mydriasis ORPHA:247815
Proteus-Like Syndrome
Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis ORPHA:2969
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis ORPHA:1764
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Elevated circulating creatine kinase concentration, Peters anomaly, Cataract, Persis... OMIM:613150
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... ORPHA:233
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of t... OMIM:609049
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
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, Microcornea, Persistent pupillary membrane OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation, Hypotriglyceridemia ORPHA:85167
Iatrogenic Botulism
Mydriasis ORPHA:254509
Infant Botulism
Keratoconjunctivitis sicca, Hyponatremia, Mydriasis ORPHA:178478
Wound Botulism
Mydriasis ORPHA:178475
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Hypophosphatemia, Abnormal pupil morphology, Hypokalemia, Buphthalmos, Hypoammon... ORPHA:534
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Elevated circulating cr... OMIM:175780
Botulism
Mydriasis ORPHA:1267
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Foodborne Botulism
Mydriasis ORPHA:228371
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Trichinellosis
Anisocoria, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia ORPHA:863
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Develop... OMIM:267750
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Retinoblastoma
Hypopyon, Uveitis, Heterochromia iridis, Leukocoria ORPHA:790
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Mydriasis OMIM:259720
Serotonin Syndrome
Mydriasis ORPHA:43116
Pituitary Apoplexy
Hyponatremia, Mydriasis ORPHA:95613
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
Elevated circulating creatine kinase concentration, Mydriasis ORPHA:90068
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Ectopia pupillae, Axenfeld anomaly, Microcornea, Astigmatism, Iris col... ORPHA:261552
Mowat-Wilson Syndrome
Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma OMIM:235730
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria, Cataract OMIM:613406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Hypokalemia ORPHA:286
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Nizon-Isidor Syndrome
Iris coloboma OMIM:618872
Autosomal Dominant Non-Syndromic Intellectual Disability
ORPHA:178469

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.

Order Mouse and ES Cells

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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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