Gene Summary

ubiquitin specific peptidase 44

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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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 Usp44 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 Usp44 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
N Syndrome
Leukemia, Neoplasm, Abnormality of chromosome stability OMIM:310465
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma OMIM:215300
Fanconi Anemia, Complementation Group G
Leukemia, Myelodysplasia, Abnormality of chromosome stability OMIM:614082
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Sarcoma ORPHA:69078
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm ... ORPHA:83469
Immunodeficiency 54
Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Neoplasm, Abnormality of chromosome stability, Elevated circulating hepatic transaminase concentr... ORPHA:100
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Lig4 Syndrome
Hepatomegaly, Acute leukemia, Abnormality of chromosome stability, Lymphoma ORPHA:99812
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Hepatic steatosi... OMIM:210900
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents OMIM:613951
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:600901
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227650
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Milroy Disease
Neoplasm of the skin, Angiosarcoma ORPHA:79452
Fanconi Anemia, Complementation Group C
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227645
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Glioma, Lymphoma, Neoplasm, B-cell lymphoma,... ORPHA:647
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Bone Marrow Failure Syndrome 3
Chromosome breakage, Acute myeloid leukemia OMIM:617052
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Fibroma OMIM:619750
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Sarcoma ORPHA:96123
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dimers in... OMIM:227646
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Meningioma, Neoplasm of the thyroid gland, En... ORPHA:201
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Parathyroid ... ORPHA:276152
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Meige Disease
Angiosarcoma ORPHA:90186
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Neoplasm of the skin, Neurofibroma, Neoplasm of the anterior pituitary, Spinal meningioma, Neopla... ORPHA:2495
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Fanconi Anemia
Abnormality of chromosome stability, Azoospermia, Abnormality of the liver, Neoplasm, Myelodysplasia ORPHA:84
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability ORPHA:175
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Parathyroid adenom... ORPHA:99880
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblast... ORPHA:143
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal neurofibroma... ORPHA:363700


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 Usp44

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 Usp44.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Usp44tm1b(EUCOMM)Hmgu PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Usp44tm1b(EUCOMM)Hmgu PMC6671969
USP44 is dispensable for normal hematopoietic stem cell function, lymphocyte development, and B-cell-mediated immune response in a mouse model. Experimental hematology (January 2019) Usp44tm1b(EUCOMM)Hmgu 30639577
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Usp44tm1b(EUCOMM)Hmgu PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Usp44tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp44tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Usp44tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Usp44tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Usp44tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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