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Gene: Tlk2 MGI:1346023

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Gene Summary

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

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
abnormal bone structure Tlk2em1(IMPC)Bay HET Early adult 4.69×10-10
increased bone mineral content Tlk2em1(IMPC)Bay HET Early adult 2.80×10-09
prenatal lethality prior to heart atrial septation Tlk2em1(IMPC)Bay HOM   E15.5 0.00
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.

Phenotype associated images not available

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
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal placenta morphology ORPHA:439167
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios 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
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Thromboc... ORPHA:295
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Hydrops fetalis, Microcytic anemia, Hypersplenism,... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia OMIM:206100
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... OMIM:615631
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia ORPHA:318
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Nonimmune hydrops fetalis, Increased nuchal translucency, Fetal akinesia se... OMIM:208150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Hydrops fetalis, Red... OMIM:613673
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Thrombocytopenia, Platelet anisocytosis OMIM:187800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254528
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hydrops fetalis, Anemia of inadequat... OMIM:224120
Restrictive Dermopathy
Short umbilical cord, Decreased fetal movement, Premature delivery because of cervical insufficie... ORPHA:1662
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hydrops fetalis, Polyhydramnios, Anemia, Oligohydramnios, Splenomegaly ORPHA:163596
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Neu-Laxova Syndrome 1
Short umbilical cord, Fetal akinesia sequence, Decreased fetal movement, Hydranencephaly, Spina b... OMIM:256520
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Intrauterine growth retardation, Premature birth, Anemia OMIM:618838
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Single umbilical artery, Hydrops fetalis, Anemia ORPHA:3405
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth ORPHA:1708
Pyropoikilocytosis, Hereditary
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia OMIM:266140
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Intrauterine gr... ORPHA:71275
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord OMIM:222470
Greenberg Dysplasia
Nonimmune hydrops fetalis, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Echoge... OMIM:215140
Meckel Syndrome, Type 1
Breech presentation, Occipital encephalocele, Anencephaly, Large placenta, Oligohydramnios, Singl... OMIM:249000
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Decreased fetal movement, Polyhydramnios, P... OMIM:275210
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Large placenta, Premature birth ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Large placenta, Premature birth 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
Tlk2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tlk2tm181271(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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