Gene Summary

Name:
pleckstrin homology domain containing, family M (with RUN domain) member 2
Synonyms:
2310034J19Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 1.71×10-05
decreased hematocrit Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 7.32×10-05
increased lean body mass Plekhm2tm1a(EUCOMM)Wtsi HOM   Early adult 9.18×10-05
increased circulating alkaline phosphatase level Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 2.67×10-05
increased leukocyte cell number Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-07
decreased circulating fructosamine level Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 1.14×10-08
decreased erythrocyte cell number Plekhm2tm1a(EUCOMM)Wtsi HOM   Early adult 2.56×10-05
decreased hemoglobin content Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-05
decreased body weight Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 3.23×10-06
decreased mean corpuscular hemoglobin Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 4.39×10-06

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 50% (1 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 132 images

Human diseases caused by Plekhm2 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 Plekhm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Abnormal T cell count, Recurrent respiratory infections, Abnormal... OMIM:613495
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Anemia, Neutr... OMIM:202700
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... OMIM:616873
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 112
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... OMIM:620449
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio... ORPHA:2169
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... ORPHA:2070
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, El... OMIM:116920
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... OMIM:618042
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocyt... OMIM:619281
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Maturity-Onset Diabetes Of The Young, Type 13
Elevated hemoglobin A1c, Reduced C-peptide level, Abnormality of body mass index OMIM:616329
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra... OMIM:607115
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... OMIM:612840
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Failure to thrive ORPHA:98791
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Failure to... ORPHA:811
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... OMIM:260400
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Abcd Syndrome
Large for gestational age, Polycythemia OMIM:600501
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Leukocytosis, Weight loss, Lung abscess, Anemia, Liver abscess ORPHA:67
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hem... OMIM:620565
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra... ORPHA:457077
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... ORPHA:292
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Neutrop... OMIM:617099
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... ORPHA:829
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Pyomyositis
Recurrent infections, Sepsis, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... OMIM:618278
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Leukocytosis, Perianal abscess, Thrombocytosis OMIM:618213
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Plekhm2

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 Plekhm2.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Plekhm2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Plekhm2tm1a(EUCOMM)Wtsi PMC6459510
TLR7 mediated viral recognition results in focal type I interferon secretion by dendritic cells. Nature communications (November 2017) Plekhm2tm1a(EUCOMM)Wtsi Plekhm2tm1b(EUCOMM)Wtsi PMC5693993
The Salmonella effector protein SifA plays a dual role in virulence. Scientific reports (August 2015) Plekhm2tm1a(EUCOMM)Wtsi PMC4534788

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
Plekhm2tm44411(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plekhm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Plekhm2tm44411(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plekhm2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter