Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane and ubiquitin-like domain containing 1
Synonyms:
Hops,  2010004O20Rik

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 Tmub1 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 Tmub1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane... ORPHA:486
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Cellulitis, Lymphopenia, Abnormally low T cell receptor excisio... OMIM:618986
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Narcolepsy 7
Narcolepsy OMIM:614250
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Limb dystonia, Hyperactivity, Reduced... ORPHA:363400
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Attention deficit hyperactivity ... OMIM:614294
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivity, Hip contracture, E... OMIM:616809
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Niemann-Pick Disease Type C
Bone-marrow foam cells, Dystonia, Axial dystonia, Narcolepsy, Progressive gait ataxia, Gait distu... ORPHA:646
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia ORPHA:314404
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:760
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Inguinal hernia, Unsteady gait, Hyperactivity ORPHA:485350
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hernia, Splenomegaly OMIM:252930
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Congenital finger flexion contractures, Hyperactivity ORPHA:166108
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity ORPHA:391307
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Flexion contracture, Splenomegaly OMIM:252940
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Hamstr... ORPHA:139396
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Pancytopenia, Acute myeloid leukemia, Hernia, Aplasti... OMIM:617052
Glass Syndrome
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity OMIM:612313
African Trypanosomiasis
Narcolepsy, Akinesia, Difficulty walking, Gait disturbance, Splenomegaly, Hepatosplenomegaly ORPHA:3385
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly OMIM:252900
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly OMIM:252920
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Histidinemia
Hyperactivity ORPHA:2157
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Acantho... OMIM:234200
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Hyperactivity OMIM:251260
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Atypical scarring of skin, Tooth abscess, Corneal scarring, Anemia, Fasciitis... ORPHA:642
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism ORPHA:255210

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 Tmub1

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 Tmub1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
HOPS/TMUB1 retains p53 in the cytoplasm and sustains p53-dependent mitochondrial apoptosis. EMBO reports (December 2019) Tmub1tm1(KOMP)Vlcg 31867855

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MGI Allele Allele Type Produced
Tmub1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmub1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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