Gene Summary

Name:
tousled-like kinase 2 (Arabidopsis)
Synonyms:
PKUalpha,  4933403M19Rik,  protein kinase U-alpha

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
prenatal lethality prior to heart atrial septation Tlk2em1(IMPC)Bay HOM   E15.5 0.00
abnormal bone structure Tlk2em1(IMPC)Bay HET Early adult 8.95×10-09
increased bone mineral content Tlk2em1(IMPC)Bay HET Early adult 1.00×10-07
preweaning lethality, complete penetrance Tlk2em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo turning Tlk2em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

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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.

MicroCT E9.5

Embryo reconstruction

3 Images

Human diseases caused by Tlk2 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.

The table below shows human diseases associated to Tlk2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 57
Single umbilical artery OMIM:618050

The table below shows human diseases predicted to be associated to Tlk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Small placenta ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254534
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Increased nuchal translucency, Thrombocytopenia, Intrauterine growth ret... ORPHA:295
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Anemia, Reduced red cell pyruvate kinase level, Chronic hemolytic anemia, Reticu... ORPHA:766
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Polyhydramnios, Small placenta, Increased nuchal translucency, Premature bi... OMIM:208150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemo... OMIM:613673
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Polyhydramnios, Umbilical hernia ORPHA:254528
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells... OMIM:224120
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature birth, Premature ... ORPHA:1662
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Anemia, Splenomegaly, Abnormal hemoglobin, Oligohydramnios ORPHA:163596
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Reticulocytosis, Hepatosplenomega... ORPHA:846
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Congenital Syphilis
Large placenta, Hydrops fetalis, Anemia, Premature birth, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:499009
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Neu-Laxova Syndrome 1
Short umbilical cord, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, Decreased fe... OMIM:256520
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Anemia OMIM:618838
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Anemia, Hydrops fetalis ORPHA:3405
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth ORPHA:1708
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Abnormalities of placenta or umbilical cord OMIM:222470
Greenberg Dysplasia
Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Nonimmune hydrops... OMIM:215140
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Single umbilical artery, Breech presentation, Anencephal... OMIM:249000
Restrictive Dermopathy 1
Short umbilical cord, Polyhydramnios, Premature birth, Decreased fetal movement, Spontaneous chor... OMIM:275210
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Umbilical hernia ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Premature birth, Spinal dysraphism, Polyhydramnios, Large placenta ORPHA:96334
Intellectual Developmental Disorder, Autosomal Dominant 57
Single umbilical artery OMIM:618050

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 Tlk2

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 Tlk2.

No publications found that use IMPC mice or data for Tlk2.

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MGI Allele Allele Type Produced
Tlk2em1(IMPC)Bay Exon Deletion Mice
Tlk2tm181271(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tlk2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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