Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ubiquitin specific peptidase 28
Synonyms:
9830148O20Rik

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 Usp28 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 Usp28 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Immunodeficiency 54
Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:609981
Fanconi Anemia, Complementation Group V
Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced ... OMIM:617243
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromo... OMIM:605724
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability OMIM:614082
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability ORPHA:859
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage OMIM:617883
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Abnormality of chromosome stability ORPHA:100
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... OMIM:600901
Fanconi Anemia, Complementation Group F
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced b... OMIM:603467
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Anemia, Chromosome breakage, Chromosomal breakage induced by crossli... OMIM:614083
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... OMIM:227650
Fanconi Anemia, Complementation Group C
Neutropenia, Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Anemia, Leukemia, Retic... OMIM:227645
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Pancytopenia, Lymphadenopathy, Acute leukemia, Abnormality of chromos... ORPHA:99812
Bloom Syndrome
Chromosome breakage, Elevated hemoglobin A1c, Leukemia, Hepatic steatosis, Abnormality of chromos... OMIM:210900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Anemi... OMIM:227646
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Abnormality of chromosome stability ORPHA:2268
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation, Generalized lymphadenopathy ORPHA:420741
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia, Abnormality of chromosome stability OMIM:300514
Revesz Syndrome
Bone marrow hypocellularity, Aplastic anemia, Abnormality of chromosome stability OMIM:268130
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Neutropenia, Anemia, Abnormality of chromosome stability ORPHA:175
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... ORPHA:699
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Abnormality of c... ORPHA:647
Fanconi Anemia
Leukopenia, Anemia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia, Abnormality of ... ORPHA:84

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 Usp28

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 Usp28.

No publications found that use IMPC mice or data for Usp28.

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MGI Allele Allele Type Produced
Usp28tm263112(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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