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Gene: Rad54l2 MGI:1933196

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Gene Summary

Name:
RAD54 like 2 (S. cerevisiae)
Synonyms:
Srisnf2l,  Arip4,  G630026H09Rik

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Rad54l2em1(IMPC)Tcp HET Early adult 6.48×10-05
preweaning lethality, complete penetrance Rad54l2em1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Rad54l2em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Rad54l2em1(IMPC)Tcp HOM   E9.5 0.00
thrombocytosis Rad54l2em1(IMPC)Tcp HET Early adult 5.78×10-05
abnormal sternum morphology Rad54l2em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Rad54l2em1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

90 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Rad54l2 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 Rad54l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thro... OMIM:209950
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosi... ORPHA:824
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Hematuria, Coombs-positive hemolytic anemi... OMIM:614034
Immunodeficiency 92
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Thrombocytosis, Anemia OMIM:226300
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Absent thu... ORPHA:124
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, Anemia OMIM:615934
Poems Syndrome
Metaphyseal sclerosis, Weight loss, Clubbing of fingers, Thrombocytosis, Polycythemia, Visceromegaly ORPHA:2905
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplica... OMIM:105650
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Leukocytosis, Weight loss, Thrombocytosis ORPHA:134
Interstitial Lung And Liver Disease
Hepatomegaly, Clubbing, Aminoaciduria, Thrombocytosis, Failure to thrive, Anemia OMIM:615486
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Ketonuria, Leukocytosis, Weight loss, Leukopenia, 3-Methylglutaric aciduria, Thromb... ORPHA:20
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive OMIM:212750
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Thrombocytosis, Impaired... ORPHA:324636
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Thrombocytosis, ... OMIM:212065
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Hypospadias, Increased mean platelet volume, Avascular n... OMIM:222470
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Thrombocytopenia, Leukoc... ORPHA:3260
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Renal hypo... ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocy... OMIM:615688
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... OMIM:301074
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Leukocytosis, Thrombocytosis, Myoglobinuria, Acute kidney inju... ORPHA:94093
Brucellosis
Hepatomegaly, Small for gestational age, Glomerulonephritis, Hypersplenism, Thrombocytopenia, Leu... ORPHA:1304
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia OMIM:618213
Doors Syndrome
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the ph... ORPHA:79500
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Glomerulonephritis, Hemolytic-uremic syndrome, Leukocytosis, Abnormality ... ORPHA:2968
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600

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 Rad54l2

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 Rad54l2.

No publications found that use IMPC mice or data for Rad54l2.

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
Rad54l2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rad54l2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rad54l2em1(IMPC)Tcp Exon Deletion Mice

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