Gene Summary

Name:
DiGeorge syndrome critical region gene 2
Synonyms:
Dgcr2,  Idd,  Lan,  Sez12,  Dgsc,  DGS-C,  9930034O06Rik

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
impaired glucose tolerance Dgcr2tm1b(EUCOMM)Wtsi HOM   Early adult 5.98×10-05
abnormal spleen morphology Dgcr2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal pelvic girdle bone morphology Dgcr2tm1b(EUCOMM)Wtsi HOM   Early adult 2.22×10-05
increased bone mineral content Dgcr2tm1b(EUCOMM)Wtsi HOM Early adult 5.28×10-06

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 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.

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Histopathology

Images

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Dgcr2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dgcr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Hypochondroplasia
Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormality of pelvic girdle bone ... OMIM:146000
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Reduced bone mineral density, Abnormality of ... ORPHA:2370
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Abnormal ... ORPHA:2725
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Coxoauricular Syndrome
Reduced bone mineral density, Hip dislocation, Abnormality of pelvic girdle bone morphology, Abno... ORPHA:1508
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Generalized osteosclerosis, Bone marrow hypocellularity, Fractures of the long bon... OMIM:166600
Estrogen Resistance
Glucose intolerance, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Hypochondroplasia
Abnormality of femur morphology, Bowing of the long bones, Genu varum, Short toe, Abnormality of ... ORPHA:429
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Spl... ORPHA:1133
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Short thumb, Short metacarpal, Abnormality of ... ORPHA:968
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic girdle bone morphol... OMIM:265800
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Club-shaped distal femur, Abnormality of pelvic girdle ... OMIM:123000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Abnormality of pelvic girdle bone morphology, Ulnar devia... ORPHA:2928
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short middle phalanx of finger, Hitchhiker thumb, Short greater sciatic no... OMIM:256050
Thoracomelic Dysplasia
Genu valgum, Abnormality of the metaphysis, Abnormality of fibula morphology, Abnormality of pelv... ORPHA:1803
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Abnormality of pelvic girdle bone morphology, Hyper... OMIM:610967
Pycnodysostosis
Short toe, Osteolysis, Abnormality of epiphysis morphology, Short distal phalanx of finger, Hepat... ORPHA:763
Osteogenesis Imperfecta, Type Ii
Broad long bones, Absent ossification of calvaria, Tibial bowing, Crumpled long bones, Abnormalit... OMIM:166210
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Hypoplasia of the ulna, ... ORPHA:321
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Stippled calcification proximal humeral epiphyses, Abnormality of pelvic girdle bone ... OMIM:222765
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Abnormality of the metacarpal bones, Abnormality of femur m... ORPHA:3429
Chondrodysplasia-Disorder Of Sex Development Syndrome
Short phalanx of finger, Increased skull ossification, Broad long bones, Short metacarpal, Abnorm... ORPHA:1422
Paget Disease Of Bone 2, Early-Onset
Abnormality of pelvic girdle bone morphology, Osteolysis, Fractures of the long bones, Bowing of ... OMIM:602080
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Aplasia/Hypoplasia involving the metacarpal b... OMIM:157900
Codas Syndrome
Congenital hip dislocation, Abnormality of epiphysis morphology, Extrahepatic biliary duct atresi... ORPHA:1458
Cleidocranial Dysplasia
Osteoporosis, Genu valgum, Abnormal thumb morphology, Abnormality of epiphysis morphology, Hypopl... ORPHA:1452
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, H... ORPHA:1788
Camurati-Engelmann Disease
Genu valgum, Abnormality of tibia morphology, Abnormality of femur morphology, Craniofacial osteo... ORPHA:1328
Sclerosteosis 1
2-3 finger syndactyly, Cortically dense long tubular bones, Facial palsy secondary to cranial hyp... OMIM:269500
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Sh... ORPHA:175
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormality of pelvic girdle bone m... ORPHA:3079
Caudal Regression Sequence
Maternal diabetes, Abnormality of pelvic girdle bone morphology, Abnormal iliac wing morphology ORPHA:3027
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of pelvic girdle bone morphology, Abnormality of the liver ORPHA:1834
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Polydactyly, Postaxial polydactyly, Tarsal stippling, Abnormality of pelvic... OMIM:302960
Isolated Epispadias
Abnormality of pelvic girdle bone morphology ORPHA:93928
Meier-Gorlin Syndrome 1
Genu valgum, Absent glenoid fossa, Camptodactyly, Slender long bone, Aplasia/Hypoplasia of the pa... OMIM:224690
Harrod Syndrome
Abnormal shoulder morphology, Arachnodactyly, Abnormality of pelvic girdle bone morphology ORPHA:2115
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Abnormality o... ORPHA:1112
Ellis Van Creveld Syndrome
Genu valgum, Hand polydactyly, Synostosis of carpal bones, Short distal phalanx of finger, Capita... ORPHA:289
Bladder Exstrophy And Epispadias Complex
Abnormality of pelvic girdle bone morphology OMIM:600057
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Short metacarpal, Capitate-hamate fusion, Coxa vara, Carpal synostosis, Bowed ... OMIM:272460
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 2nd finger, Toe syndactyly, Radioulnar synostosi... OMIM:101400

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.

Phenotype Allele Zygosity Sex Life Stage
Heart - developmental and structural abnormality Dgcr2tm1b(EUCOMM)Wtsi HOM Early adult

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 Dgcr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models. Psychiatry and clinical neurosciences (March 2018) Dgcr2tm1b(EUCOMM)Wtsi 29369447

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MGI Allele Allele Type Produced
Dgcr2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Dgcr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dgcr2tm46920(L1L2_Bact_P) Targeting vectors

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