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Gene: Dgcr2 MGI:892866

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Gene Summary

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

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
increased bone mineral content Dgcr2tm1b(EUCOMM)Wtsi HOM Early adult 5.28×10-06
abnormal pelvic girdle bone morphology Dgcr2tm1b(EUCOMM)Wtsi HOM   Early adult 2.03×10-05
impaired glucose tolerance Dgcr2tm1b(EUCOMM)Wtsi HOM   Early adult 7.06×10-05
abnormal spleen morphology Dgcr2tm1b(EUCOMM)Wtsi HOM Early adult 0.00

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 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 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)
Cerebellum N/A heterozygote 100% (2 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)
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 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)
Prostate gland N/A heterozygote 50% (1 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)
Testis N/A heterozygote 50% (1 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)
Vas deferens N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
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 Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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Histopathology

Images

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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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
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... ORPHA:1509
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Reduced bone mineral density, Abnormal metacarpal morphol... ORPHA:2370
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Reduced bone mineral density, ... ORPHA:1508
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... OMIM:607634
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormal pelvic girdle bone morphology, Fractures of the long bones,... OMIM:166600
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Abnormal tibia morphology, Abnormal hi... ORPHA:2639
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal femur morphology, Bowing of the long ... ORPHA:429
Aredyld Syndrome
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Type... ORPHA:1133
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Brachydactyly, Cuboidal met... ORPHA:968
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Brachydactyly, Camptodactyly o... ORPHA:2928
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Osteopenia, Abnormal pelvic girdle bone morphology, Ante... OMIM:610967
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Genu valgum, Diaphyseal undertubulation, Abnormal fibula ... ORPHA:1803
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Bifid humerus, Hitchhi... OMIM:256050
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Increased skull ossification, Broad long bones, Abnormal ... ORPHA:1422
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... ORPHA:1452
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Craniofacial osteoscler... ORPHA:1328
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopeni... OMIM:102700
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112

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 Dgcr2

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion. Cell & bioscience (July 2023) Dgcr2tm1b(EUCOMM)Wtsi 37480133
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

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
Dgcr2tm46920(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dgcr2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Dgcr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dgcr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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