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Gene: Med25 MGI:1922863

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Gene Summary

Name:
mediator complex subunit 25
Synonyms:
ESTM2,  2610529E18Rik,  2610034E13Rik

Order Alleles

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
increased total body fat amount Med25tm1b(KOMP)Wtsi HET   Early adult 4.59×10-05
decreased mean corpuscular volume Med25tm1b(KOMP)Wtsi HET   Early adult 8.17×10-06
short tibia Med25tm1b(KOMP)Wtsi HET Early adult 1.08×10-09
decreased exploration in new environment Med25tm1b(KOMP)Wtsi HET Early adult 1.19×10-06
decreased locomotor activity Med25tm1b(KOMP)Wtsi HET   Early adult 1.96×10-05
preweaning lethality, complete penetrance Med25tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total retina thickness Med25tm1b(KOMP)Wtsi HET Early adult 3.11×10-08
abnormal motor capabilities/coordination/movement Med25tm1b(KOMP)Wtsi HET   Early adult 3.05×10-06
abnormal auditory brainstem response Med25tm1b(KOMP)Wtsi HET   Early adult 1.13×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Med25 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 Med25 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Aggressive behavior, Finger syndactyly, Inability to walk, Clinodactyly, Broa... ORPHA:464738
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Uplifted earlobe, 2-3 toe syndactyly, Low-set ears OMIM:616449

The table below shows human diseases predicted to be associated to Med25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
Camptodactyly of finger, Triphalangeal thumb, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... OMIM:601382
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Talipes equinovarus, Clinodacty... OMIM:201170
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Sensorineural hearing impairment, Rhizomelia, Short ribs, Hypoplasia of the radius, ... OMIM:607143
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Tali... OMIM:612576
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Micrognathia, Persistence of hemoglobin F, Macrocytic an... OMIM:300946
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Slc35A2-Cdg
Camptodactyly of finger, Short tibia, Hip subluxation, Sensorineural hearing impairment, Coxa val... ORPHA:356961
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Talip... OMIM:601455
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma OMIM:258865
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split hand, Aplasia o... OMIM:119100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... ORPHA:1505
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Pes cavus, Difficulty walking, Hammertoe, Abnormal cra... OMIM:601596
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... ORPHA:1106
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Elbow flexion... OMIM:601559
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Gait disturbance, Emotional lability, Ataxia, Pes... ORPHA:206443
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Hip subluxation, Short phalanx of finger, Short 5th finger, Micrognathia, Hip disloc... OMIM:268305
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... OMIM:201050
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma... ORPHA:2760
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Micrognathia, Hip dysplasia, Preaxial foot ... ORPHA:1988
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Cone/cone... OMIM:608940
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Cognitive impairment, Inability to walk, Absent br... ORPHA:101085
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia, Prolonged brainstem auditory evoked potentials, Irritability, Joint contra... OMIM:616881
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Polydactyly, Short tibia, Patellar hypoplasia, Preaxial foot p... OMIM:603671
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Pes cavus, Progressive neurologic deterioration, Menta... ORPHA:206448
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Macrotia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrog... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean... OMIM:612561
Methylcobalamin Deficiency Type Cble
Clinodactyly, Pancytopenia, Syndactyly, Macrocytic anemia, Lethargy, Increased mean corpuscular v... ORPHA:2169
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Wrist flexion contracture, Hip contracture, Hernia, Joint contracture o... OMIM:193700
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Sensorineural hearing impairment, Patellar dislocation, Tibial torsion, F... ORPHA:3320
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger OMIM:617523
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Bilateral talipes equinovarus, Preaxial foot polydactyly, Absent tibia, Mirr... OMIM:119800
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Flexion contracture, Sensorineural hearing impairment, Abnormality of somatosensory ... ORPHA:99027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... OMIM:171480
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga OMIM:109120
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Flexion contracture, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, ... ORPHA:96334
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Conductive hearing impairment, Fin... ORPHA:2751
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Cerebrotendinous Xanthomatosis
Optic atrophy, Suicidal ideation, Abnormal auditory evoked potentials, Pes cavus, Progressive psy... ORPHA:909
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Cockayne Syndrome Type 1
Pigmentary retinopathy, Enamel hypoplasia, Foot joint contracture, Macrotia, Abnormality of perip... ORPHA:90321
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Infantile Krabbe Disease
Ankle clonus, Optic atrophy, Psychomotor deterioration, Decreased nerve conduction velocity, Prog... ORPHA:206436
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Microtia, Short ribs, Micrognathia, Short long bone, Preaxia... OMIM:617925
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... OMIM:206920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Reduced subcutaneous adipose... OMIM:216400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Blackfan-Diamond Anemia
Acute myeloid leukemia, Absent thumb, Micrognathia, Thrombocytopenia, Lethargy, Normochromic anem... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Lethargy, Megaloblastic anemia, Spastic ataxia OMIM:277410
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Short thumb, Neutropen... OMIM:612562
Saul-Wilson Syndrome
Coxa valga, Sensorineural hearing impairment, Short metacarpal, Enlarged epiphyses, Micrognathia,... OMIM:618150
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Metaphyseal irregul... ORPHA:811
16Q24.3 Microdeletion Syndrome
Micrognathia, Hip dysplasia, Optic nerve hypoplasia, Proximal placement of thumb, Increased mean ... ORPHA:261250
Tibial Hemimelia
Absent tibia OMIM:275220
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Occipital Horn Syndrome
Coxa valga, Large iliac wing, Scarring, Hip dislocation, Short palm, Aplasia/hypoplasia of the hu... ORPHA:198
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Short foot, Joint contracture of the hand, Short ribs, Rhizomelia, Sho... OMIM:228520
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Microtia, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bon... ORPHA:1788
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Trisomy 10P
Short toe, Contracture of thumb, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with ... ORPHA:171929
Cockayne Syndrome B
Hypoplastic iliac wing, Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, ... OMIM:133540
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... OMIM:127550
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Cousin Syndrome
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodacty... OMIM:260660
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Elbow flexion contracture, Foot polydactyly, Hip dislocation, Hand ... OMIM:200980
Mend Syndrome
2-3 toe syndactyly, Aggressive behavior, Abnormal auditory evoked potentials, Micrognathia, Hand ... ORPHA:401973
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... ORPHA:79330
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Tibial bowing, Hip di... ORPHA:140
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Midline central nervous system lipomas, Pre... ORPHA:1827
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Campomelic Dysplasia
Short phalanx of finger, Conductive hearing impairment, Hallux valgus, Micrognathia, Hip dislocat... OMIM:114290
Charge Syndrome
Micrognathia, Lop ear, Bilateral talipes equinovarus, Cupped ear, Facial palsy, Absent tibia, Han... OMIM:214800
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Sho... OMIM:304120
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... ORPHA:3144
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Short toe, Rhizomelia, Short ribs, Retinal dystrophy, Clinodactyly, Short hume... OMIM:218330
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Conductive hearing impairme... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Conductive hearing impairment, Joint contracture of the hand, Microti... OMIM:300373
Eisenmenger Syndrome
Pedal edema, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corp... ORPHA:97214
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Hypoplasia of proximal radius, Conductive hearing impairment, Sensorineural hear... ORPHA:444077
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Aggressive behavior, Finger syndactyly, Inability to walk, Clinodactyly, Broa... ORPHA:464738
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Uplifted earlobe, 2-3 toe syndactyly, Low-set ears OMIM:616449

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 Med25

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 Med25.

No publications found that use IMPC mice or data for Med25.

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MGI Allele Allele Type Produced
Med25tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Med25tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Med25tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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