Gene Summary

Name:
dolichyl-di-phosphooligosaccharide-protein glycotransferase
Synonyms:
N/A

IMPC Data Collections

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
embryonic lethality prior to organogenesis Ddosttm1.1(KOMP)Vlcg HOM   E9.5 0.00
decreased body length Ddosttm1.1(KOMP)Vlcg HET   Early adult 1.03×10-05
decreased hemoglobin content Ddosttm1.1(KOMP)Vlcg HET Early adult 6.17×10-06
embryonic lethality prior to tooth bud stage Ddosttm1.1(KOMP)Vlcg HOM   E12.5 0.00
enlarged lymph nodes Ddosttm1.1(KOMP)Vlcg HET Early adult 0.00
small spleen Ddosttm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Ddosttm1.1(KOMP)Vlcg HOM   Early adult 0.00
small adrenal glands Ddosttm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 50% (1 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 50% (1 of 2)
Hypothalamus N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (1 of 1)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 66.67% (2 of 3)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 66.67% (2 of 3)
Embryo N/A heterozygote 66.67% (2 of 3)
Eye N/A heterozygote 66.67% (2 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 66.67% (2 of 3)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 66.67% (2 of 3)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 66.67% (2 of 3)
Chorioallantoic placenta N/A heterozygote 50% (1 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

Adult LacZ

LacZ Images Section

7 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Human diseases caused by Ddost 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 Ddost by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ir
OMIM:614507

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Hepatosplenomegaly, Circulating nucleated red blood cells, Poiki... OMIM:613673
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volu... OMIM:618849
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jaundice, Erythro... ORPHA:231222
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Follicular thyroid ca... ORPHA:319487
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Abnormality of the ly... ORPHA:97290
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... OMIM:219080
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess, Abn... ORPHA:54251
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... OMIM:615830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Cryptorchidism, Anemia, Lymphopenia, Hyper... OMIM:617053
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Testicular neoplasm, Increased urinary cortisol level, Paradoxical increased c... ORPHA:189439
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... ORPHA:96181
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Jaundice, Abnormal circulating androgen level, Macroorchidi... ORPHA:90790
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Cryptorchidism, HbH hemoglobin ORPHA:98791
Pearson Syndrome
Hypoplastic spleen, Pancytopenia, Exocrine pancreatic insufficiency, Abnormality of the liver, He... ORPHA:699
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... ORPHA:786
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Abnormal ovarian morphology, Abnormal response to ACTH stimul... ORPHA:95699
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Lymph node h... OMIM:300755
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Supernumerary nipple, HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochr... OMIM:141750
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Aplastic anemia, Pure r... ORPHA:99867
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Pancytopenia, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Cryptorchidism OMIM:601186
Cushing Disease
Pituitary corticotropic cell adenoma, Leukocytosis, Decreased eosinophil count, Increased urinary... ORPHA:96253
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Cryptorchidism ORPHA:847
Lead Poisoning
Decreased circulating osteocalcin level, Imbalanced hemoglobin synthesis, Anemia, Delayed puberty... ORPHA:330015
Doors Syndrome
Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Ddost-Cdg
Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ir
OMIM:614507

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 Ddost

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 Ddost.

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

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MGI Allele Allele Type Produced
Ddosttm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ddosttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Ddosttm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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