Gene Summary

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

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
abnormal coat/hair pigmentation Med12lem1(IMPC)J HOM Early adult 1.56×10-10
abnormal vocalization Med12lem1(IMPC)J HOM Early adult 3.75×10-09
abnormal locomotor behavior Med12lem1(IMPC)J HOM Early adult 1.33×10-08
irregularly shaped pupil Med12lem1(IMPC)J HOM Early adult 1.32×10-06
increased circulating alanine transaminase level Med12lem1(IMPC)J HOM Early adult 1.71×10-09
decreased grip strength Med12lem1(IMPC)J HOM Early adult 6.42×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

Auditory Brain Stem Response

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

8 Images

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
Sparse eyebrow, 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
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Gait ataxia, Fair hair, Developmental cataract OMIM:618808
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... OMIM:619165
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, A... ORPHA:79476
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... ORPHA:54
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis OMIM:257800
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Alexander Disease
Microcoria, Dysmetria, Ataxia OMIM:203450
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Abnormal circulating phytanic ac... ORPHA:247815
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... ORPHA:33445
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon,... ORPHA:3163
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Ataxia, Hypopigmentation o... ORPHA:411515
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Ga... ORPHA:3214
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... ORPHA:352731
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Revesz Syndrome
Broad-based gait, Ridged fingernail, Fine hair, Megalocornea, Nail dystrophy, Leukocoria, Ataxia,... OMIM:268130
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Gait disturbance, Corneal opacity,... ORPHA:1764
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Charcot-Marie-Tooth Disease Type 1E
Difficulty walking, Inability to walk, Gait imbalance, Abnormal pupil morphology, Steppage gait, ... ORPHA:90658
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Trisomy 9P
Fingernail dysplasia, Abnormal pupil morphology, Hypoplastic toenails, Hypoplastic fingernail ORPHA:236
Facial Spasm
Anisocoria OMIM:134300
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Limbal de... ORPHA:2969
Duane Retraction Syndrome
Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor... ORPHA:233
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... OMIM:203100
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling OMIM:619649
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Hypopigmen... ORPHA:98795
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Ataxia-Telangiectasia
Premature graying of hair, Gait disturbance, Multiple cafe-au-lait spots, Ataxia, Hypopigmentatio... ORPHA:100
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Ataxia, Hy... ORPHA:411511
Obesity And Hypopigmentation
Red hair OMIM:620195
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Fine hair, Persistent pupillary membrane, Sparse eyelashes, Sparse hair OMIM:257850
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Hyperpigmentation of the skin, Ataxia OMIM:231550
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Hy... OMIM:611584
Coats Disease
Leukocoria OMIM:300216
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Hypopigmentation of hair, Ataxia ORPHA:70472
Miller Fisher Syndrome
Mydriasis, Anisocoria, Ataxia ORPHA:98919
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus OMIM:229200
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Persis... OMIM:613150
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Astigmatism, Ectopia pupillae OMIM:618727
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Sclerocornea OMIM:615877
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Scalp-Ear-Nipple Syndrome
Cataract, Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse a... OMIM:181270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Anisocoria, Ataxia OMIM:615510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypotriglyceridemia, Ectopia pupillae, Abnormality of retinal pigmentation, Corneal opacity, Lens... ORPHA:85167
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Lens subluxation, Alopecia of scalp, Chorioretinal atrophy,... OMIM:267750
Superficial Siderosis
Limb ataxia, Dysmetria, Progressive gait ataxia, Ataxia, Unsteady gait, Anisocoria, Dysdiadochoki... ORPHA:247245
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Gait disturbance, Keratoglobus, Corneal dystr... ORPHA:90354
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Ataxia, Hy... ORPHA:98794
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Fine hair, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Hypophosp... ORPHA:534
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Ataxia, Hypopig... ORPHA:2719
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Gait dist... OMIM:214500
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Waardenburg Syndrome, Type 1
Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,... OMIM:193500
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Charcot-Marie-Tooth Disease Type 4C
Difficulty walking, Anisocoria, Gait ataxia, Inability to walk ORPHA:99949
Oculo-Palato-Cerebral Syndrome
Aplasia/Hypoplasia of the nails, Cataract, Leukocoria ORPHA:2714
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Intestinal Botulism
Mydriasis ORPHA:178481
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape ORPHA:45358
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Infant Botulism
Hyponatremia, Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Highly arched eyebrow, Anisocoria, Supernumerary nipple OMIM:618653
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Iatrogenic Botulism
Mydriasis ORPHA:254509
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Wound Botulism
Mydriasis ORPHA:178475
Nephronophthisis 11
Anisocoria OMIM:613550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria ORPHA:863
Inhalational Botulism
Mydriasis ORPHA:254504
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,... ORPHA:79430
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E... OMIM:175780
Ch├ędiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... ORPHA:167
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Low anterior hairline OMIM:618223
Botulism
Mydriasis ORPHA:1267
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria, Ataxia ORPHA:79138
Foodborne Botulism
Mydriasis ORPHA:228371
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Arachnoid Cyst
Inability to walk, Mydriasis, Gait disturbance ORPHA:2356
Alternating Hemiplegia Of Childhood
Thin eyebrow, Mydriasis, Choreoathetosis, Ataxia ORPHA:2131
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Multiple cafe-au-lait spots ORPHA:1556
Koolen-De Vries Syndrome
Abnormality of hair texture, Cataract, Hypopigmentation of hair ORPHA:96169
Vici Syndrome
Cataract, Hypopigmentation of the skin, Ocular albinism, Elevated circulating creatine kinase con... OMIM:242840
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Serotonin Syndrome
Mydriasis ORPHA:43116
Pituitary Apoplexy
Hyponatremia, Mydriasis ORPHA:95613
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Ectopia pupillae, Hyperconvex fingernails, Rieger anomaly, Low posterior h... OMIM:194190
Scorpion Envenomation
Mydriasis, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating N... ORPHA:466677
Witteveen-Kolk Syndrome
Cataract, High anterior hairline, Fine hair, Medial flaring of the eyebrow, Anisocoria, Iris colo... OMIM:613406
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... ORPHA:84064
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Highly arched eyebrow, Broad-based gait, Cataract, Microcornea, Ectopia pupillae, Inability to wa... ORPHA:261552
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Melanocytic nevus, Abnormal pupil morphology, Hypokalemia, Abnormality of ... ORPHA:286
Mowat-Wilson Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Broad eyeb... OMIM:235730
Cocaine Intoxication
Mydriasis, Elevated circulating creatine kinase concentration ORPHA:90068
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Retinoblastoma
Leukocoria OMIM:180200
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Smith-Lemli-Opitz Syndrome
Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocornea, Abnormal eyelash... ORPHA:818
Degcags Syndrome
Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol... OMIM:619488
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Sponastrime Dysplasia
Cataract, Microcoria, Congenital aphakia ORPHA:93357
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Plague
Conjunctival hyperemia, Mydriasis, Unsteady gait ORPHA:707
Nizon-Isidor Syndrome
Sparse eyebrow, 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.

Order Mouse and ES Cells

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
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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