Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
microtubule associated serine/threonine kinase family member 4
Synonyms:
4930420O11Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mast4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mast4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Malposition Of Teeth With Or Without Hypodontia/Oligodontia
Hypodontia, Tooth malposition OMIM:189490
Diastema, Dental Medial
Widely-spaced maxillary central incisors, Diastema OMIM:125900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Taurodontism
Taurodontia OMIM:272700
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Micrognathia, Increased overbite, Retrognathia, Dental malocclusion, ... OMIM:613684
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Dental crowding, Anterior open-bite malocclusio... OMIM:602483
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Mandibular prognathia ORPHA:1858
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Open bite, Micrognathia, Mandibular prognathia, Denta... ORPHA:2471
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Craniosynostosis 3
Dental malocclusion OMIM:615314
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Dental crowding, Th... OMIM:616331
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Alpha-Mannosidosis
Open bite, Craniofacial hyperostosis, Widely spaced teeth, Macroglossia, Mandibular prognathia, D... ORPHA:61
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Malar flattening, Mandibular prognathia, Dental malocclusion, Thick ... OMIM:603463
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Mental Retardation, Buenos Aires Type
High palate, Carious teeth, Mandibular prognathia, Thin upper lip vermilion, Dental malocclusion,... OMIM:249630
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Diastema, Micrognathia ORPHA:436245
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Micrognathia, Hamartoma of tongue, Abnormality of the temporomandibula... ORPHA:137888
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Anodontia, Dental malo... OMIM:264475
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Mandibular prognathia, Dent... ORPHA:1327
Potocki-Lupski Syndrome
High palate, Micrognathia, Dental crowding, Smooth philtrum, Mandibular prognathia, Dental malocc... OMIM:610883
Intermediate Osteopetrosis
Osteosclerosis of the base of the skull, Abnormality of dental morphology, Dental malocclusion, A... ORPHA:210110
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Mcdonough Syndrome
Short philtrum, Micrognathia, Furrowed tongue, Mandibular prognathia, Dental malocclusion OMIM:248950
Cherubism
Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Multipl... OMIM:118400
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Dental malocclusion OMIM:612350
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Drooling, Enamel hypoplasia, Microdontia, Widely spaced teeth, Exaggerated cupid'... OMIM:619293
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Everted lower lip vermilion, Thick lower lip vermilion, Micrognathia, Malar flattening, Abnormali... ORPHA:85321
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Smooth philtrum... OMIM:157980
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Thick upper lip vermilion OMIM:617883
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Microdontia, Malar flattening, Dental malocclusion... OMIM:618727
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Malar flattening, Micrognathia OMIM:608257
Acrootoocular Syndrome
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Grayish enamel... ORPHA:2980
Three M Syndrome 2
High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Dental malocclusion, Thi... OMIM:612921
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Micrognathia, M... ORPHA:3473
Lessel-Kreienkamp Syndrome
Open mouth, Thin upper lip vermilion, Dental malocclusion OMIM:619149
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Carious teeth OMIM:613680
Intellectual Disability, Buenos-Aires Type
High palate, Open bite, Abnormality of dental morphology, Mandibular prognathia, Dental malocclusion ORPHA:3079
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Long philtrum, Everted lower lip vermilion, Dental crowding, ... OMIM:617877
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Deep philtrum, Micrognathia... OMIM:190350
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Thin lower lip vermilion, Carious teeth, Thick upper lip vermilion,... ORPHA:363444
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Thick upper lip... ORPHA:2563
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Impaired mastication, Micrognathia OMIM:617258
Short Syndrome
Delayed eruption of teeth, Hypodontia, Micrognathia, Dental malocclusion, Downturned corners of m... OMIM:269880
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Cleft palate OMIM:608545
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Retrognathia OMIM:601552
Frontometaphyseal Dysplasia 1
High palate, Delayed eruption of teeth, Antegonial notching of mandible, Selective tooth agenesis... OMIM:305620
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Deep philtrum, Micrognathia, Thin upper lip vermilion, Dental malocclusion ORPHA:329178
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow mouth, Pierre-Robin sequence, High palate, Short philtrum, Agenesis of permanent teeth, Lo... ORPHA:251028
Seckel Syndrome 1
High palate, Enamel hypoplasia, Micrognathia, Selective tooth agenesis, Dental crowding, Dental m... OMIM:210600
Harrod Syndrome
Narrow mouth, High palate, Dental malocclusion, High, narrow palate OMIM:601095
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Dental malocclusion, Carious teeth OMIM:615560
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Thick lower lip vermilion, Microretrognathia, Anterior ... OMIM:123450
Harrod Syndrome
Narrow mouth, High palate, Dental malocclusion ORPHA:2115
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Hamamy Syndrome
High palate, Long philtrum, Hypodontia, Micrognathia, Smooth philtrum, Dental malocclusion, Wide ... OMIM:611174
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Dental malocclusion, Malar flattening, Mandibular... OMIM:269500
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Hypodontia, Micrognathia, Selective tooth agenesis, Fragile teeth, Dental malocclusion ORPHA:2959
Van Maldergem Syndrome 2
High palate, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Malar flattenin... OMIM:615546
Van Maldergem Syndrome 1
High palate, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Malar flattenin... OMIM:601390
Kabuki Syndrome 2
High palate, Lower lip pit, Hypodontia, Micrognathia, Natal tooth, Dental malocclusion, Cleft palate OMIM:300867
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Long philtrum, Tented upper lip vermilion, Mandibular prognathia, Smooth philtrum, D... OMIM:618975
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion OMIM:608940
Takenouchi-Kosaki Syndrome
Short philtrum, Long philtrum, Widely spaced teeth, Smooth philtrum, Thin upper lip vermilion, De... OMIM:616737
Elsahy-Waters Syndrome
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Hy... OMIM:211380
Hallermann-Streiff Syndrome
Narrow mouth, High palate, Thin vermilion border, Everted lower lip vermilion, Supernumerary toot... OMIM:234100
Phelan-Mcdermid Syndrome
High palate, Long philtrum, Widely spaced teeth, Micrognathia, Malar flattening, Dental malocclusion OMIM:606232
Craniofaciofrontodigital Syndrome
Abnormality of the dentition, Dental malocclusion, Long philtrum OMIM:114620
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Thick vermilion border OMIM:610733
Martin-Probst Syndrome
Thick lower lip vermilion, Micrognathia, Malar flattening, Dental malocclusion, Wide mouth OMIM:300519
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Long philtrum, Gingival overgrowth, Micrognathia, Cleft lip, Dental ... OMIM:616894
Oliver Syndrome
Short philtrum, High palate, Dental malocclusion, Mandibular prognathia ORPHA:2920
Cardiofaciocutaneous Syndrome 1
High palate, Open bite, Open mouth, Deep philtrum, Micrognathia, Submucous cleft hard palate, Abn... OMIM:115150
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Hypodontia, Hypoplasia of the maxilla, Mandibular prognathia, Dental m... OMIM:101800
Osteopathia Striata With Cranial Sclerosis
Pierre-Robin sequence, High palate, Bifid uvula, Cleft upper lip, Paranasal sinus hypoplasia, Cra... OMIM:300373
Holoprosencephaly 9
Short philtrum, Dental malocclusion, Solitary median maxillary central incisor, Cleft upper lip, ... OMIM:610829
Localized Scleroderma
Short dental root, Abnormality of upper lip, Abnormality of the dentition, Dental malocclusion, A... ORPHA:90289
Robinow Syndrome
Broad alveolar ridges, Long philtrum, Hypodontia, Bifid tongue, Micrognathia, Dental crowding, Ma... ORPHA:97360
7Q11.23 Microduplication Syndrome
High palate, Short philtrum, Dental malocclusion, Drooling, Micrognathia, Retrognathia, Thin uppe... ORPHA:96121
Cerebellar-Facial-Dental Syndrome
Long philtrum, Micrognathia, Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodo... ORPHA:444072
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Dental malocclusion, Cle... OMIM:603457
Faciocardiomelic Syndrome
Long philtrum, Micrognathia, Hyperplasia of the maxilla, Dental malocclusion, Wide mouth OMIM:612731
Turnpenny-Fry Syndrome
Narrow mouth, High palate, Drooling, Abnormality of the dentition, Microdontia, Widely spaced tee... OMIM:618371
Nestor-Guillermo Progeria Syndrome
Micrognathia, Dental crowding, Microretrognathia, Mandibular osteolysis, Dental malocclusion, Thi... OMIM:614008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:352665
Spondyloenchondrodysplasia
Dental malocclusion, Delayed eruption of teeth ORPHA:1855
Schwartz-Jampel Syndrome
Narrow mouth, High palate, Dental malocclusion, Long philtrum, Trismus, Everted lower lip vermili... ORPHA:800
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Malar flattening, Mandibular prognathia, Dental malocclus... OMIM:101200
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate OMIM:182212
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Short philtrum, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Smooth philtrum, ... ORPHA:487796
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth OMIM:227330
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion OMIM:259730
Hajdu-Cheney Syndrome
High palate, Long philtrum, Micrognathia, Absent frontal sinuses, Premature loss of teeth, Dental... OMIM:102500
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Conical incisor, Dental maloc... ORPHA:73223
Frank-Ter Haar Syndrome
Broad alveolar ridges, High palate, Micrognathia, Thin upper lip vermilion, Dental malocclusion, ... OMIM:249420
Cockayne Syndrome A
Enamel hypoplasia, Carious teeth, Hypoplasia of teeth, Delayed eruption of primary teeth, Mandibu... OMIM:216400
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Abnormality of dental eruption, Absent ethmoidal sinuses,... OMIM:211910
Mccune-Albright Syndrome
Dental malocclusion, Abnormal facial skeleton morphology ORPHA:562
Cockayne Syndrome B
Carious teeth, Hypoplasia of teeth, Delayed eruption of primary teeth, Mandibular prognathia, Den... OMIM:133540
Microphthalmia, Syndromic 2
Bifid uvula, Fused teeth, Long philtrum, Delayed eruption of teeth, Radiculomegaly, Oligodontia, ... OMIM:300166
Osteogenesis Imperfecta
Dental malocclusion, Delayed eruption of teeth, Carious teeth, Micrognathia, Abnormal dental enam... ORPHA:666
Cockayne Syndrome
Agenesis of permanent teeth, Enamel hypoplasia, Carious teeth, Abnormal number of teeth, Delayed ... ORPHA:191
Coffin-Lowry Syndrome
High palate, Open mouth, Hypodontia, Everted lower lip vermilion, Widely spaced teeth, Mandibular... OMIM:303600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypodontia, Carious teeth, Supernumerary tooth, Natal tooth, Dental crowding, Talon cusp, Dental ... ORPHA:353281
Rubinstein-Taybi Syndrome 1
Narrow mouth, High palate, Enamel hypoplasia, Micrognathia, Abnormal number of teeth, Hypoplasia ... OMIM:180849
Focal Dermal Hypoplasia
Cleft upper lip, Delayed eruption of teeth, Enamel hypoplasia, Oligodontia, Hypodontia, Dental ma... OMIM:305600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hypodontia, Carious teeth, Supernumerary tooth, Micrognathia, Natal tooth, Dental cr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hypodontia, Carious teeth, Supernumerary tooth, Micrognathia, Natal tooth, Dental cr... ORPHA:353277
Williams Syndrome
Long philtrum, Open bite, Hypodontia, Carious teeth, Thick lower lip vermilion, Everted lower lip... ORPHA:904
Fraser Syndrome 1
Cleft upper lip, Dental crowding, Dental malocclusion, Cleft palate, Difficulty in tongue movements OMIM:219000
Fraser Syndrome
High palate, Cleft upper lip, Dental crowding, Oral cleft, Dental malocclusion, Bifid tongue ORPHA:2052
Monosomy 22Q13.3
Dental crowding, Dental malocclusion, Malar flattening ORPHA:48652
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Malar flattening, Retrognathia, Dental malocclusion, Cleft palate ORPHA:284984
Noonan Syndrome 1
High palate, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate OMIM:163950
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Thick vermilion border, Submucous cleft lip, Macroglossia, Mand... OMIM:312870
Williams-Beuren Syndrome
Long philtrum, Open mouth, Hypodontia, Thick lower lip vermilion, Microdontia, Malar flattening, ... OMIM:194050
Loeys-Dietz Syndrome 3
High palate, Bifid uvula, Malar flattening, Retrognathia, Dental malocclusion, Cleft palate OMIM:613795

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 Mast4

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 Mast4.

No publications found that use IMPC mice or data for Mast4.

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