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Gene: Plekhm2 MGI:1916832

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Gene Summary

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

Order Alleles

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
decreased hematocrit Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 7.32×10-05
decreased circulating fructosamine level Plekhm2tm1a(EUCOMM)Wtsi HOM   Early adult 1.14×10-08
increased circulating alkaline phosphatase level Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 2.67×10-05
increased lean body mass Plekhm2tm1a(EUCOMM)Wtsi HOM   Early adult 9.18×10-05
decreased hemoglobin content Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 2.21×10-05
increased leukocyte cell number Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-07
decreased erythrocyte cell number Plekhm2tm1a(EUCOMM)Wtsi HOM   Early adult 2.56×10-05
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
decreased mean corpuscular volume Plekhm2tm1a(EUCOMM)Wtsi HOM Early adult 1.71×10-05

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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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood vessel 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
eye 0.0%
gall bladder 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
peripheral nervous system 0.17% (1 of 584)
peyer's patch 0.59% (1 of 169)
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
uterus 0.35% (2 of 571)
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
Plekhm2tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Plekhm2tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Plekhm2tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Plekhm2tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Plekhm2tm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI

View all 132 images

Plekhm2tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Plekhm2tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

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
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... 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, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... OMIM:616022
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurr... OMIM:613501
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... OMIM:608957
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Recurrent bacter... OMIM:202700
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit OMIM:263400
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
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
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... OMIM:209950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... ORPHA:2169
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocytosis, Splenome... OMIM:618042
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent bacterial infectio... OMIM:116920
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Liver abscess, Transient... OMIM:607676
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Anemia ORPHA:514
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis, ... OMIM:619281
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... OMIM:612840
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypoamylasemia, Leukopenia, Ap... ORPHA:811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... OMIM:618620
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... OMIM:260400
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ... ORPHA:3226
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia ORPHA:90060
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Omenn Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Cryptogenic Organizing Pneumonia
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Majeed Syndrome
Failure to thrive, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cachexia, Hypochrom... ORPHA:77297
Mevalonic Aciduria
Failure to thrive, Elevated circulating C-reactive protein concentration, Fluctuating splenomegal... OMIM:610377
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Lead Poisoning
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... ORPHA:330015
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Pyomyositis
Sepsis, Recurrent infections, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Primary Hyperoxaluria Type 1
Failure to thrive, Abnormality of circulating enzyme level, Hyperoxaluria, Calcinosis, Anemia ORPHA:93598
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Thrombocytopenia ORPHA:391673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin... OMIM:615895
Sickle Cell Anemia
Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency OMIM:603903
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Anterior Cutaneous Nerve Entrapment Syndrome
Decreased body weight, Leukocytosis ORPHA:51890
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Leukocytosis, Hypochromic anemia, Thrombocytosis, Perianal abscess OMIM:618213
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a... ORPHA:97214
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Urachal Cyst
Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:488

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

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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

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