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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 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 1.23×10-08
preweaning lethality, complete penetrance Tlk2em1(IMPC)Bay HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Tlk2em1(IMPC)Bay HOM   E15.5 0.00
abnormal embryo turning Tlk2em1(IMPC)Bay HOM E9.5 0.00
increased bone mineral content Tlk2em1(IMPC)Bay HET Early adult 2.08×10-09

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.

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MicroCT E9.5

Embryo reconstruction

3 Images

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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
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... ORPHA:2133
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia 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
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia 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
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune 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
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios ORPHA:254528
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohydramnios ORPHA:163596
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Neu-Laxova Syndrome 1
Decreased fetal movement, Polyhydramnios, Spina bifida, Fetal akinesia sequence, Short umbilical ... OMIM:256520
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
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, Hydrops fetalis, Anemia ORPHA:3405
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Trichohepatoenteric Syndrome 1
Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios OMIM:222470
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter... OMIM:249000
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Premature birth, Polyhydramnios, Spinal dysraphism 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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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
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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