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

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 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
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart 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
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Tricuspid... ORPHA:1120
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... ORPHA:1908
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Short stature ORPHA:1327
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Growth delay, Cervical spina bifida OMIM:600122
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenos... OMIM:617660
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation, Myelome... ORPHA:1393
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Pagod Syndrome
Meningocele, Short stature, Situs inversus totalis, Spina bifida, Hypoplastic left heart, Sudden ... ORPHA:991
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta ORPHA:3219
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Endocardial fibroelasto... ORPHA:99776
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Trisomy 18
Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short stature, Growth de... ORPHA:3380
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, A... ORPHA:2369
Neu-Laxova Syndrome 1
Short umbilical cord, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation... OMIM:256520
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Patent ductus arteriosus, Spina bifida, Ab... ORPHA:2092
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Rhizomelia, Spina bifida, Hydrocephalus, Spinal... ORPHA:63259
Vacterl With Hydrocephalus
Arrhinencephaly, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Short stature, Atrioventric... ORPHA:508498
22Q11.2 Deletion Syndrome
Meningocele, Ventricular septal defect, Arrhinencephaly, Intrauterine growth retardation, Occipit... ORPHA:567
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma OMIM:109400
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Jacobsen Syndrome
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Spina bi... ORPHA:2308
Fanconi Anemia
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Growth delay, Short stature, Abnorm... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Short stature, Spina bifida, Tetralogy of Fallot, Atrial septal defect OMIM:274000
Neu-Laxova Syndrome
Spina bifida, Intrauterine growth retardation ORPHA:2671
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Hallermann-Streiff Syndrome
Telangiectasia, Hypertension, Pulmonary arterial hypertension, Proportionate short stature, Spina... OMIM:234100
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Alobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:93924
Semilobar Holoprosencephaly
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Abnorm... ORPHA:220386
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... OMIM:192350
Neurofibromatosis, Type I
Hypertension, Short stature, Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Spina bifida, Patent ductus arteriosus OMIM:619480
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Aicardi Syndrome
Spina bifida, Postnatal growth retardation OMIM:304050
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele ORPHA:573278

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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