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Gene: Dnttip1 MGI:1923483

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Gene Summary

Name:
deoxynucleotidyltransferase, terminal, interacting protein 1
Synonyms:
6430706C13Rik

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
preweaning lethality, complete penetrance Dnttip1tm1b(KOMP)Wtsi HOM   Early adult 0.00
thrombocytosis Dnttip1tm1b(KOMP)Wtsi HET Early adult 4.25×10-05

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  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 0.0% (0 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Section

43 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Dnttip1 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 Dnttip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Heme Oxygenase 1 Deficiency
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis OMIM:614034
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Anemia, Thrombocytosis OMIM:226300
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Thrombocytosis, Lymphopenia OMIM:615934
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Abnorma... OMIM:600901
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Thrombocytosis, Leukocytosis ORPHA:20
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Abnorma... OMIM:227650
Poems Syndrome
Thrombocytosis, Polycythemia ORPHA:2905
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... OMIM:300835
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, ... OMIM:615688
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... OMIM:301074
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Fanconi Anemia, Complementation Group C
Anemia, Ventricular septal defect, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 p... OMIM:227645
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly OMIM:222470
Hepatocellular Carcinoma
Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia ORPHA:88673
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Brucellosis
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly ORPHA:1304
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Abnorma... OMIM:227646
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Doors Syndrome
Thrombocytosis ORPHA:79500

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 Dnttip1

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 Dnttip1.

No publications found that use IMPC mice or data for Dnttip1.

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MGI Allele Allele Type Produced
Dnttip1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dnttip1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dnttip1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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