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Gene: Usp28 MGI:2442293

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Gene Summary

Name:
ubiquitin specific peptidase 28
Synonyms:
9830148O20Rik

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IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b... OMIM:616435
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:609981
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Chromo... OMIM:605724
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Biliary atresia OMIM:615272
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage OMIM:617883
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
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617244
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Chromosomal breakag... OMIM:620133
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol... OMIM:617052
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Ataxia-Telangiectasia
Lymphopenia, Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus ORPHA:100
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents OMIM:613951
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... OMIM:227650
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... OMIM:227645
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Hepatic steatosis, Leukemia, Elevated h... OMIM:210900
Fanconi Anemia, Complementation Group L
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Chromos... OMIM:614083
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Leukopenia, Chromosomal breakage induced by crosslinking agents, Thr... OMIM:603467
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Lymphadenopathy,... ORPHA:99812
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Aplastic anemia OMIM:610832
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Abnormality of chromosome stability ORPHA:2268
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Riddle Syndrome
Generalized lymphadenopathy, Chromosomal breakage induced by ionizing radiation ORPHA:420741
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Anemia, Neutropenia, Hepatomegaly, Abnormality of the pancreas ORPHA:175
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Thrombocytopeni... ORPHA:647
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Fanconi Anemia
Abnormality of chromosome stability, Abnormality of the liver, Leukopenia, Thrombocytopenia, Anem... 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
Usp28em1(IMPC)Mbp Exon Deletion Mice, Tissue
Usp28tm263112(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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