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Gene: Dpm2 MGI:1330238

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Gene Summary

Name:
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Synonyms:
N/A

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
impaired glucose tolerance Dpm2tm1b(EUCOMM)Hmgu HET Early adult 6.88×10-07
increased circulating total protein level Dpm2tm1b(EUCOMM)Hmgu HET Early adult 1.37×10-06
enlarged heart Dpm2tm1b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Dpm2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver 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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

24 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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Download thumbnail Download
OPT E9.5

Embryo reconstruction

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Dpm2 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 Dpm2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration OMIM:615042
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated circulating creatine kinase concentration ORPHA:329178

The table below shows human diseases predicted to be associated to Dpm2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... ORPHA:90041
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... ORPHA:158048
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Johanson-Blizzard Syndrome
Diabetes mellitus, Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocardia ORPHA:2315
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... OMIM:614702
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Dengue Fever
Hepatomegaly, Hypoproteinemia ORPHA:99828
Leptospirosis
Hepatomegaly, Pericarditis, Hyperproteinemia ORPHA:509
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia OMIM:226300
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Dilated cardiomyo... OMIM:615895
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia OMIM:235255
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Omenn Syndrome
Splenomegaly, Hepatomegaly, Hypoproteinemia OMIM:603554
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... ORPHA:42
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... OMIM:601005
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... ORPHA:465508
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Splenomegaly, Increased circulating fer... ORPHA:167
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Liver Disease, Severe Congenital
Hypoproteinemia, Hepatomegaly, Hyponatremia, Ventricular septal defect, Left atrial enlargement, ... OMIM:619991
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypo... OMIM:614921
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... OMIM:620306
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... OMIM:261740
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Pierson Syndrome
Hypoproteinemia OMIM:609049
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... OMIM:252500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... ORPHA:581
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly ORPHA:137675
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarg... OMIM:130650
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tol... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, N... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Diabetes mellitus, Cardiomegaly ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Overriding aorta, Bicu... ORPHA:904
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration OMIM:615042
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated circulating creatine kinase concentration ORPHA:329178

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 Dpm2

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 Dpm2.

No publications found that use IMPC mice or data for Dpm2.

Order Mouse and ES Cells

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
Dpm2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dpm2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Dpm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dpm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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