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Gene: Tmed2 MGI:1929269

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane p24 trafficking protein 2
Synonyms:
p24beta1,  Sid394,  1810020N21Rik,  1110032D12Rik

Order Alleles

IMPC Data Collections

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

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.

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 Tmed2 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 Tmed2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... ORPHA:1120
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Triploidy
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... ORPHA:3376
Wildervanck Syndrome
Meningocele ORPHA:3456
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Humero-Radial Synostosis
Meningocele ORPHA:3265
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... OMIM:614424
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occ... ORPHA:2311
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pagod Syndrome
Encephalocele, Short stature, Sudden cardiac death, Spina bifida, Situs inversus totalis, Meningo... ORPHA:991
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydroc... OMIM:130720
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Patent du... ORPHA:99776
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... ORPHA:3380
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Ab... ORPHA:2092
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... OMIM:256520
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... ORPHA:508498
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... ORPHA:2308
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Growth delay, Abnormal card... ORPHA:84
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart, Short stature OMIM:277170
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Telangiectasia, Hypertension, Pulmonary arterial hyper... OMIM:234100
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension OMIM:162200
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Short stature, Spina bifida, Patent ductus arteriosus, Atrial septal d... OMIM:274000
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida OMIM:619480
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93924
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Disproportionate short... OMIM:114290
Marfan Syndrome
Congestive heart failure, Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... OMIM:180849
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Arima Syndrome
Growth delay, Occipital meningocele, Hypertension OMIM:243910
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... OMIM:304120
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820

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 Tmed2

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 Tmed2.

No publications found that use IMPC mice or data for Tmed2.

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MGI Allele Allele Type Produced
Tmed2tm42872(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmed2tm42872(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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