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Gene: Dip2b MGI:2145977

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Gene Summary

Name:
disco interacting protein 2 homolog B
Synonyms:
N/A

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
decreased body weight Dip2btm1a(EUCOMM)Wtsi HET Early adult 2.21×10-08
decreased mean corpuscular hemoglobin Dip2btm1a(EUCOMM)Wtsi HET Early adult 8.50×10-06
increased circulating calcium level Dip2btm1a(EUCOMM)Wtsi HET   Early adult 1.21×10-05
decreased total body fat amount Dip2btm1a(EUCOMM)Wtsi HET Early adult 7.11×10-05
increased blood urea nitrogen level Dip2btm1a(EUCOMM)Wtsi HET   Early adult 5.01×10-05

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Ambiguous
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
bone 0.0%
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)
eye 0.0%
gall bladder 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%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 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)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Dip2btm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
head, HET, Female, WTSI

View all 81 images

Dip2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Dip2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Dip2b 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 Dip2b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Fra12A Type
OMIM:136630

The table below shows human diseases predicted to be associated to Dip2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ... OMIM:617872
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Rhabdoid Tumor
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypophosphatasia
Anemia, Failure to thrive in infancy, Hypercalcemia ORPHA:436
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thrive, Increased blood urea nitrogen... OMIM:613845
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy... OMIM:612526
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia OMIM:145981
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Splenomegaly ORPHA:172
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia, Obesity, Abnormal dental... ORPHA:251004
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Hypercalcemia ORPHA:99879
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia OMIM:603233
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Failure to thrive, Hypercalcemia, Splenomegaly OMIM:239200
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Anemia, Hypercalcemia OMIM:241500
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Weight loss, Normocytic anemia, Hyperkalemia, Failure to thrive, Hypercalcemia, Ma... ORPHA:199299
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Oculoskeletodental Syndrome
Enamel hypoplasia, Hypocalcemia, Hypercalcemia ORPHA:557003
Oculoskeletodental Syndrome
Small for gestational age, Elbow flexion contracture, Hypercalcemia, Hypocalcemia, Splenomegaly OMIM:618440
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:600740
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Multiple Myeloma
Anemia, Weight loss, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinem... ORPHA:29073
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Normocytic anemia, Hyperkalemia, Increased circulating renin level, F... ORPHA:95409
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
X-Linked Agammaglobulinemia
Anemia, Weight loss, Cellulitis, Hypocalcemia, Failure to thrive, Thrombocytopenia, Neutropenia ORPHA:47
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypercalcemia, Lipoma, Hypocalcemic seizures, Chondrocalcinosis, Renal hypophosp... ORPHA:405
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hypophosphatemia, Hip contracture, Hypercalcemia OMIM:156400
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hepatocellular Carcinoma
Anemia, Weight loss, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia... ORPHA:88673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Addison Disease
Hyperuricemia, Weight loss, Normocytic anemia, Hyperkalemia, Increased circulating renin level, T... ORPHA:85138
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Mastocytosis
Mastocytosis, Hypercalcemia, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia ORPHA:79445
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... OMIM:601678
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Monosomy 13Q34
Obesity, Hypercalcemia ORPHA:96168
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cockayne Syndrome Type 1
Enamel hypoplasia, Anemia, Foot joint contracture, Scarring, Increased blood urea nitrogen, Failu... ORPHA:90321
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Vipoma
Weight loss, Hypokalemia, Hypercalcemia, Normochromic anemia, Subcutaneous lipoma ORPHA:97282
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:259700
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97283
Glucagonoma
Weight loss, Normochromic anemia, Hypercalcemia, Acanthocytosis, Subcutaneous lipoma ORPHA:97280
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Parathyroid Carcinoma
Weight loss, Hypophosphatemia, Lipoma, Hypercalcemia, Chondrocalcinosis ORPHA:143
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age, Hypocalcemia OMIM:127000
Zollinger-Ellison Syndrome
Multiple lipomas, Lipoma, Hypercalcemia, Weight loss ORPHA:913
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia OMIM:602361
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Normocytic anemia, Increased blood urea nitrogen, Elevated circulating C-reactive pr... ORPHA:49041
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Ppoma
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97278
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Hypocalcemia OMIM:600081
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Elevated circulating crea... ORPHA:26793
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia OMIM:264700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Subcutaneous lipoma OMIM:131100
Pheochromocytoma
Hypercalcemia OMIM:171300
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Weight loss, Failure to thrive, Thrombocytosis, Macrocytic anemia, Iron defici... OMIM:212750
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia ORPHA:93160
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Lipoma ORPHA:99880
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Hypophosphatemic Rickets
Enthesitis, Hypophosphatemia, Odontodysplasia, Failure to thrive, Hypercalcemia ORPHA:437
Grfoma
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97261
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Timothy Syndrome
Hypocalcemia OMIM:601005
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypocalcemia OMIM:607143
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Decreased prealbumin level, Neutropenia in presence of anti-neutrop... ORPHA:37042
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Flexion contracture, Microcytic anemia ORPHA:98791
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, Elevated cir... ORPHA:411634
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Bacterial Toxic-Shock Syndrome
Cellulitis, Fasciitis, Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulat... ORPHA:36234
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hyp... ORPHA:94089
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... OMIM:259720
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Subcutaneous lipoma ORPHA:276152
Sarcoidosis
Leukopenia, Anemia, Hemolytic anemia, Weight loss, Scarring, Increased T cell count, Hypercalcemi... ORPHA:797
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Hypercalcemia ORPHA:653
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hyp... ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Abnormal dental enamel morphology ORPHA:2323
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Hypercalcemia, Weight loss ORPHA:652
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Cholera
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Pearson Syndrome
Anemia, Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Hypocalcemia, ... ORPHA:699
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia, Splenomegaly ORPHA:1655
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... OMIM:260400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Small for gestational age, Unconjugated hyperbilirubinemia, Pancytopenia, Failure to thri... OMIM:613658
Williams Syndrome
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Ing... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... ORPHA:2785
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hyp... ORPHA:79443
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly OMIM:617913
Lead Poisoning
Abnormal T cell morphology, Anemia, Small for gestational age, Imbalanced hemoglobin synthesis, I... ORPHA:330015
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Isotretinoin-Like Syndrome
Inguinal hernia, Hypocalcemia, Lymphopenia ORPHA:2306
Williams-Beuren Syndrome
Flexion contracture, Inguinal hernia, Hypercalcemia, Obesity, Failure to thrive in infancy, Umbil... OMIM:194050
Thymoma
Weight loss, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia, Weight loss OMIM:233450
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Cartilage-Hair Hypoplasia
Failure to thrive, Anemia, Neutropenia, Hypocalcemia ORPHA:175
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Hypermagnesemia, Failure to thrive, Iron deficiency anemia, Hypoc... ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Thymic Aplasia
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of... ORPHA:83471
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Velocardiofacial Syndrome
Inguinal hernia, Hypocalcemia, Umbilical hernia OMIM:192430
Liver Disease, Severe Congenital
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... OMIM:619991
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:544482
Sotos Syndrome
Bilateral camptodactyly, Flexion contracture, Hip contracture, Acute lymphoblastic leukemia, Ingu... ORPHA:821
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Anemia, Hypocalcemia, Splenomegaly ORPHA:667
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Failure to thrive, Inguinal hernia, Thrombocytopenia, Obe... ORPHA:567
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia, Splenomegaly, Lymphopenia ORPHA:2136
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, Umbilical hernia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Hypocalcemia, Inguinal hernia, Umbilical hernia, Thrombocytopen... OMIM:188400
Cranioectodermal Dysplasia 1
Inguinal hernia, Enamel hypoplasia, Hypocalcemia OMIM:218330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Hip contracture, Hemolytic anem... OMIM:619503
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Autosomal Recessive Hypophosphatemic Rickets
Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Charge Syndrome
Umbilical hernia, Omphalocele, Hypocalcemia, Lymphopenia OMIM:214800
Intellectual Developmental Disorder, Fra12A Type
OMIM:136630

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 Dip2b

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 Dip2b.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Targeted Disruption of Mouse Dip2B Leads to Abnormal Lung Development and Prenatal Lethality. International journal of molecular sciences (November 2020) Dip2btm1a(KOMP)Wtsi PMC7663123
DIP2B Interacts With α-Tubulin to Regulate Axon Outgrowth. Frontiers in cellular neuroscience (February 2020) Dip2btm1a(EUCOMM)Wtsi PMC7045754
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dip2btm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dip2btm1a(EUCOMM)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Dip2btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dip2btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dip2btm47397(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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