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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 6.55×10-05
irregularly shaped pupil Med12lem1(IMPC)J HOM Early adult 4.01×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Anisocoria
Anisocoria OMIM:106240
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coats Disease
Leukocoria OMIM:300216
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Proteus-Like Syndrome
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid ORPHA:2969
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Duane Retraction Syndrome
Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris coloboma, Central heterochromia, ... ORPHA:233
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion ORPHA:1764
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Persistent pupillary membrane, Cataract OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly OMIM:613150
Inhalational Botulism
Mydriasis ORPHA:254504
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Nephronophthisis 11
Anisocoria OMIM:613550
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Botulism
Mydriasis ORPHA:1267
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Foodborne Botulism
Mydriasis ORPHA:228371
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract ORPHA:2714
Trichinellosis
Conjunctival hyperemia, Abnormal uvea morphology, Anisocoria, Conjunctivitis ORPHA:863
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... OMIM:175780
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Chorioretinal dysplasia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Ca... ORPHA:534
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... ORPHA:649
Retinoblastoma
Heterochromia iridis, Hypopyon, Uveitis, Leukocoria ORPHA:790
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Serotonin Syndrome
Mydriasis ORPHA:43116
Retinoblastoma
Leukocoria OMIM:180200
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
Pituitary Apoplexy
Mydriasis ORPHA:95613
Witteveen-Kolk Syndrome
Anisocoria, Iris coloboma OMIM:613406
Arachnoid Cyst
Mydriasis ORPHA:2356
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ectopia pupillae, Iris coloboma OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pupil morphology, Cataract, Astigmatism, ... ORPHA:261552
Mowat-Wilson Syndrome
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Ectopia pupillae OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Cocaine Intoxication
Mydriasis ORPHA:90068
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Scorpion Envenomation
Mydriasis ORPHA:466677
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus ORPHA:286
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.

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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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