Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dip2b MGI:2145977

Gene Summary

Name:

disco interacting protein 2 homolog B

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased total body fat amount	Dip2b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.11×10^-05
increased circulating calcium level	Dip2b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.21×10^-05
increased blood urea nitrogen level	Dip2b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.01×10^-05
decreased body weight	Dip2b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.21×10^-08
decreased mean corpuscular hemoglobin	Dip2b^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.50×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	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	0.0%
aorta	0.0%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
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

Dip2b^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Dip2b^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Dip2b^{tm1a(EUCOMM)Wtsi}
forearm, HET, Female, WTSI

Dip2b^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

View all 81 images

Dip2b^{tm1a(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.

Human diseases associated with Dip2b (1 diseases)
Human diseases predicted to be associated with Dip2b (241 diseases)

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	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Adamantinoma	Hypercalcemia	ORPHA:55881
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu...	OMIM:617872
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Failure to thrive	OMIM:239199
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutaneous adipose tissue,...	OMIM:612526
Hypophosphatasia	Anemia, Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia	OMIM:145981
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia, Failure to thrive	ORPHA:172
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Episodic hemolytic anemia, Increased blood urea nitro...	ORPHA:251004
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Familial Isolated Hyperparathyroidism	Chondrocalcinosis, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Hypocalcemia	ORPHA:100025
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Failure to thrive	OMIM:241500
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Oculoskeletodental Syndrome	Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hypercalcemia, Small for gestational age	OMIM:618440
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Enamel hypoplasia	ORPHA:557003
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Failure to thrive, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophili...	ORPHA:199299
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia	OMIM:600740
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive	ORPHA:163693
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyperproteinemi...	ORPHA:29073
Infantile Myofibromatosis	Chondrocalcinosis, Hypercalcemia	ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
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
Thymic Neuroendocrine Tumor	Weight loss, Hypercalcemia	ORPHA:97289
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hyp...	ORPHA:95409
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc...	ORPHA:405
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis, Enamel hypoplasia	OMIM:211900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Hip contracture, Knee flexion contracture	OMIM:156400
Addison Disease	Normocytic anemia, Failure to thrive, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hy...	ORPHA:85138
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hypercalcemia	ORPHA:276621
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gestational age,...	OMIM:601678
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Monosomy 13Q34	Obesity, Hypercalcemia	ORPHA:96168
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia	OMIM:612462
Cockayne Syndrome Type 1	Foot joint contracture, Failure to thrive, Scarring, Enamel hypoplasia, Increased blood urea nitr...	ORPHA:90321
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Failure to thrive	ORPHA:476126
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Vipoma	Subcutaneous lipoma, Hypokalemia, Weight loss, Hypercalcemia, Normochromic anemia	ORPHA:97282
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula...	ORPHA:247353
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Anemia, Small for gestational age	OMIM:127000
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Parathyroid Carcinoma	Chondrocalcinosis, Hypophosphatemia, Weight loss, Lipoma, Hypercalcemia	ORPHA:143
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Hypercalcemia	ORPHA:29072
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Failure to thrive	OMIM:606407
Glucagonoma	Subcutaneous lipoma, Acanthocytosis, Weight loss, Hypercalcemia, Normochromic anemia	ORPHA:97280
Somatostatinoma	Hypochromic microcytic anemia, Weight loss, Hypercalcemia, Subcutaneous lipoma	ORPHA:97283
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive	OMIM:602361
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Hypocalcemic seizures	ORPHA:94089
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Weight loss, Increased blood ur...	ORPHA:49041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ...	ORPHA:26793
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:600081
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Weight loss, Hypercalcemia	ORPHA:913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	OMIM:264700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Celiac Disease, Susceptibility To, 1	Failure to thrive, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Enamel hypoplasia, We...	OMIM:212750
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Ppoma	Weight loss, Hypercalcemia, Subcutaneous lipoma	ORPHA:97278
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia...	ORPHA:289157
Pheochromocytoma	Hypercalcemia	OMIM:171300
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology	ORPHA:93160
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Chondrocalcinosis, Hypophosphatemia, Hypercalcemia	ORPHA:99880
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Autoimmune hemolytic...	ORPHA:37042
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Grfoma	Weight loss, Hypercalcemia, Subcutaneous lipoma	ORPHA:97261
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive	ORPHA:98791
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231226
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231214
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypocalcemia, Failure to thrive	OMIM:607143
Timothy Syndrome	Hypocalcemia	OMIM:601005
Sarcoidosis	Hypercalcemia, Leukopenia, Increased T cell count, Scarring, Eosinophilia, Weight loss, Thrombocy...	ORPHA:797
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Reduced subcutaneous adipose tissue	ORPHA:653
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia	OMIM:619769
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Subcutaneous lipoma	ORPHA:276152
Double Outlet Right Ventricle	Hypocalcemia, Failure to thrive	ORPHA:3426
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia	OMIM:235255
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp...	ORPHA:79444
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Multiple Endocrine Neoplasia Type 1	Multiple lipomas, Weight loss, Hypercalcemia	ORPHA:652
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp...	ORPHA:699
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Obesity, Hyperphosphatemia, Enamel hypoplasia	OMIM:103580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Splenomegaly, Inguinal hernia, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Slender build, Pancytopenia, Inguinal hernia, Hypocalcemia, A...	OMIM:613658
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th...	OMIM:248250
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Williams Syndrome	Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental enamel morphology, Fa...	ORPHA:904
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia...	OMIM:260400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lead Poisoning	Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester...	ORPHA:330015
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp...	ORPHA:79443
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c...	ORPHA:2785
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Goodpasture Syndrome	Anemia, Weight loss, Increased blood urea nitrogen	OMIM:233450
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Cartilage-Hair Hypoplasia	Anemia, Failure to thrive, Hypocalcemia, Neutropenia	ORPHA:175
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia	ORPHA:99867
Williams-Beuren Syndrome	Umbilical hernia, Failure to thrive in infancy, Obesity, Inguinal hernia, Flexion contracture, Hy...	OMIM:194050
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thy...	ORPHA:83471
Gitelman Syndrome	Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia,...	ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hy...	OMIM:619991
Velocardiofacial Syndrome	Inguinal hernia, Hypocalcemia, Umbilical hernia	OMIM:192430
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia	ORPHA:544482
Sotos Syndrome	Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Hip contracture, Bilateral camptoda...	ORPHA:821
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis	Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia	ORPHA:667
22Q11.2 Deletion Syndrome	Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguinal hernia,...	ORPHA:567
Hennekam Syndrome	Lymphopenia, Hypocalcemia, Splenomegaly, Camptodactyly of finger	ORPHA:2136
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Abnormal hemoglobin	ORPHA:847
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia	OMIM:301040
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Hepatosplenomegaly, Hemolytic anemi...	OMIM:619503
Digeorge Syndrome	Umbilical hernia, Obesity, Inguinal hernia, Hypocalcemia, Splenomegaly, Hypoplasia of the thymus,...	OMIM:188400
Cranioectodermal Dysplasia 1	Inguinal hernia, Enamel hypoplasia, Hypocalcemia	OMIM:218330
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Umbilical hernia	OMIM:620330
Johanson-Blizzard Syndrome	Failure to thrive, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugat...	OMIM:243800
Charge Syndrome	Lymphopenia, Hypocalcemia, Omphalocele, Umbilical hernia	OMIM:214800
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
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 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Heterozygous loss of Dip2B enhances tumor growth and metastasis by altering immune microenvironment.	International immunopharmacology (January 2022)	Dip2b^{tm1a(EUCOMM)Wtsi}	35091337
Analysis of Dip2B Expression in Adult Mouse Tissues Using the LacZ Reporter Gene.	Current issues in molecular biology (June 2021)	Dip2b^{tm1a(EUCOMM)Wtsi}	34208944
Targeted Disruption of Mouse Dip2B Leads to Abnormal Lung Development and Prenatal Lethality.	International journal of molecular sciences (November 2020)	Dip2b^{tm1a(KOMP)Wtsi}	PMC7663123
DIP2B Interacts With α-Tubulin to Regulate Axon Outgrowth.	Frontiers in cellular neuroscience (February 2020)	Dip2b^{tm1a(EUCOMM)Wtsi}	PMC7045754
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dip2b^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dip2b^{tm1a(EUCOMM)Wtsi}	PMC6459510

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
Dip2b^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Dip2b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dip2b^{tm47397(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us