Gene Summary

Name:
disco interacting protein 2 homolog B
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
decreased body weight Dip2btm1a(EUCOMM)Wtsi HET Early adult 2.21×10-08
increased circulating calcium level Dip2btm1a(EUCOMM)Wtsi HET   Early adult 2.53×10-06
decreased circulating triglyceride level Dip2btm1a(EUCOMM)Wtsi HET Early adult 7.62×10-06
decreased mean corpuscular hemoglobin Dip2btm1a(EUCOMM)Wtsi HET Early adult 8.50×10-06
decreased total body fat amount Dip2btm1a(EUCOMM)Wtsi HET Early adult 7.11×10-05

Download data as:  TSV  XLS

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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 0.53% (3 of 571)
aorta 0.18% (1 of 564)
blood vessel 0.0%
bone 0.0%
brain 0.71% (4 of 562)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 562)
cerebellum 0.53% (3 of 571)
cerebral cortex 0.35% (2 of 570)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 570)
hippocampus 0.52% (3 of 573)
hypothalamus 0.35% (2 of 568)
kidney 3.55% (20 of 563)
large intestine 1.59% (9 of 566)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.18% (1 of 563)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.35% (2 of 570)
ovary 0.0%
oviduct 0.0%
pancreas 0.88% (5 of 568)
parathyroid gland 0.19% (1 of 538)
peripheral nervous system 0.35% (2 of 566)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 563)
prostate gland 2.1% (12 of 572)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 570)
small intestine 1.59% (9 of 567)
spinal cord 0.35% (2 of 569)
spleen 0.53% (3 of 564)
stomach 2.13% (12 of 564)
striatum 0.35% (2 of 571)
testis 1.07% (6 of 563)
thymus 0.17% (1 of 573)
thyroid gland 2.99% (17 of 568)
trachea 0.52% (3 of 572)
uterus 0.0%
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

View all 81 images

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
Mental Retardation, 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 D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Splenomegaly, Hype... OMIM:612526
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Thrombocytopenia ORPHA:69077
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Anemia ORPHA:436
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Increased body weight ORPHA:94086
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Splenomegaly, Hypocalcemia ORPHA:172
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Failure to thrive, Anemia, Hypophosphatemia, Splenomegaly OMIM:239200
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... ORPHA:398063
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypophosphatasia, Infantile
Failure to thrive, Hypercalcemia, Anemia, Elevated plasma pyrophosphate OMIM:241500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Failure to thrive, Weight loss... ORPHA:199299
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Hypocalcemia ORPHA:100025
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level, Weight loss ORPHA:97289
Oculocerebrodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea... ORPHA:251004
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Splenomegaly, Hypocalcemia, Elbow flexion contracture OMIM:618440
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Hyp... ORPHA:95409
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis ORPHA:2591
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia, Cellulitis ORPHA:47
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... OMIM:601678
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Thi... ORPHA:85138
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Hip contracture, Knee flexion contracture OMIM:156400
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Increased circulating cortisol level, Weight loss, ... ORPHA:97283
Vipoma
Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Normochromic anemia, Weight los... ORPHA:97282
Glucagonoma
Hypercalcemia, Acanthocytosis, Increased circulating cortisol level, Normochromic anemia, Weight ... ORPHA:97280
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Weight loss, Anemia, Hype... ORPHA:88673
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Parathyroid Carcinoma
Hypercalcemia, Chondrocalcinosis, Weight loss, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:143
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level, Weight loss, Lipoma, Multiple lipomas ORPHA:913
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... ORPHA:90362
Ppoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma ORPHA:97278
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma OMIM:131100
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia OMIM:259700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesi... OMIM:259720
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia, Obesity ORPHA:369837
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Grfoma
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma ORPHA:97261
Monosomy 13Q34
Obesity, Infantile hypercalcemia ORPHA:96168
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:99880
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Failure to thrive, Weight loss, Enamel... OMIM:212750
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia OMIM:127000
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia ORPHA:249
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Diamond-Blackfan Anemia 6
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia, Flexion contracture ORPHA:98791
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Hypophosphatemic Rickets
Hypercalcemia, Failure to thrive, Hypophosphatemia, Odontodysplasia, Enthesitis ORPHA:437
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... ORPHA:231222
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... ORPHA:37042
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemia ORPHA:289157
Pheochromocytoma
Hypercalcemia OMIM:171300
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:276152
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Spl... ORPHA:231226
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... ORPHA:231214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Shwachman-Diamond Syndrome 1
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... OMIM:260400
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level, Weight loss, Multi... ORPHA:652
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Sarcoidosis
Hypercalcemia, Scarring, Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopeni... ORPHA:797
Pearson Syndrome
Neutropenia, Hypokalemia, Small for gestational age, Hypophosphatemia, Anemia, Hyperalaninemia, H... ORPHA:699
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Splenomegaly, Inguinal hernia, Hypocalcemia OMIM:235255
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia ORPHA:73224
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Elevated circulating creatine kinase concentration, Failure to thrive, Anemia, Hypoca... ORPHA:2785
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Inguinal hernia ORPHA:1655
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Abnormal circulating lipid concentration, Elevated c... ORPHA:904
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79443
Gitelman Syndrome
Chondrocalcinosis, Primary hyperaldosteronism, Hypokalemia, Iron deficiency anemia, Failure to th... ORPHA:358
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Aplastic anemia ORPHA:99867
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, S... OMIM:613658
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Williams-Beuren Syndrome
Hypercalcemia, Failure to thrive in infancy, Inguinal hernia, Flexion contracture, Obesity, Umbil... OMIM:194050
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Failure to thrive, Hypocalcemia ORPHA:175
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Fai... ORPHA:83471
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Sotos Syndrome
Hypercalcemia, Acute lymphoblastic leukemia, Ankle flexion contracture, Bilateral camptodactyly, ... ORPHA:821
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Flexion contracture ORPHA:847
22Q11.2 Deletion Syndrome
Failure to thrive, Obesity, Hypoplasia of the thymus, Abnormal dental enamel morphology, Inguinal... ORPHA:567
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Anemia, Hypocalcemia ORPHA:667
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hennekam Syndrome
Splenomegaly, Lymphopenia, Camptodactyly of finger, Hypocalcemia ORPHA:2136
Acrodysostosis With Multiple Hormone Resistance
Obesity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia OMIM:218330
Digeorge Syndrome
Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... OMIM:619503
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Johanson-Blizzard Syndrome
Failure to thrive, Increased VLDL cholesterol concentration, Small for gestational age, Hypocalcemia OMIM:243800
Charge Syndrome
Omphalocele, Lymphopenia, Umbilical hernia, Hypocalcemia OMIM:214800
Mental Retardation, 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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