Gene Summary

Name:
DOP1 leucine zipper like protein B
Synonyms:
Dopey2,  2610510B01Rik,  0610038M01Rik

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
increased lean body mass Dop1btm1a(EUCOMM)Wtsi HOM Early adult 4.96×10-05
increased blood urea nitrogen level Dop1btm1a(EUCOMM)Wtsi HOM Early adult 2.65×10-05
increased grip strength Dop1btm1a(EUCOMM)Wtsi HOM Early adult 7.75×10-05
decreased circulating glycerol level Dop1btm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-05
abnormal coat appearance Dop1btm1a(EUCOMM)Wtsi HOM Early adult 1.54×10-05
increased bone mineral density Dop1btm1a(EUCOMM)Wtsi HOM Early adult 3.65×10-07
increased bone mineral content Dop1btm1a(EUCOMM)Wtsi HOM Early adult 1.58×10-06
increased leukocyte cell number Dop1btm1a(EUCOMM)Wtsi HOM Early adult 7.68×10-05
decreased circulating free fatty acids level Dop1btm1a(EUCOMM)Wtsi HOM Early adult 4.81×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Human diseases caused by Dop1b 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 Dop1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Alopecia, Osteoporosis, Increased bone density w... OMIM:136300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Osteomyelitis, Increased bone mineral density, Craniosynostosis,... OMIM:259700
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Long eyelashes, Joint hyperm... OMIM:614856
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Leukocytosis, Splenomegaly, Con... ORPHA:77297
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Hypocalcemia, Osteo... ORPHA:53
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Recurrent fractures, Increased bone mineral density, Osteopenia, Hydroxyprolin... OMIM:239000
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Th... OMIM:611490
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:612840
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... ORPHA:77259
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... ORPHA:94089
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Increased bone mineral density, Decreased osteoclast count, Ost... OMIM:259720
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex ORPHA:85184
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Werner Syndrome
Slender build, Joint stiffness, Pili torti, Sparse scalp hair, Increased bone mineral density, Ab... ORPHA:902
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Joint hypermobility OMIM:223360
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Poems Syndrome
Sclerosis of skull base, Hypertrichosis, Sclerosis of foot bone, Leukonychia, Polycythemia, Throm... ORPHA:2905
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism OMIM:154230
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Anemia, Hyperphosphatemi... OMIM:127000
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Hepatosplenomegaly, Generalized osteosc... ORPHA:763
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hypopigmentation of hair, Splenomegaly OMIM:618541
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Cockayne Syndrome Type 1
Failure to thrive, Anemia, Increased blood urea nitrogen, Foot joint contracture ORPHA:90321
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Anemia, Hepatosplenomegaly, Osteoporosi... ORPHA:98850
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Rheumatoid ... ORPHA:49041
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Trichothiodystrophy
Sparse scalp hair, Multiple joint contractures, Increased bone mineral density, Brittle hair, Cra... ORPHA:33364
12Q14 Microdeletion Syndrome
Failure to thrive, Thick eyebrow, Abnormality of the spleen, Synophrys, Osteopoikilosis ORPHA:94063
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Cr... OMIM:259730
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density, Splenomegaly ORPHA:35107
Atypical Werner Syndrome
Pili torti, Failure to thrive, Decreased body weight, Increased bone mineral density, Abnormal ha... ORPHA:79474
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Decreased body weight, Abnormal eyebrow morphology, Increased b... ORPHA:800
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... ORPHA:2070
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Weight loss, Osteolysis, Xanthelasma, Anemia ORPHA:35687
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... ORPHA:231222
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
X-Linked Hypophosphatemia
Hypophosphatemia, Reduced bone mineral density, Craniosynostosis, Arthritis, Vertebral hyperostos... ORPHA:89936
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Abnormal erythrocyte enzyme level, Decreased s... ORPHA:447
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... ORPHA:77261
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Hypocalcemic tetany, Hyperpho... ORPHA:79444
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... ORPHA:79443
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Increased circulating free fatty acid level, Acroosteolysis of distal phal... ORPHA:2457
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Arthrogryposis multiplex congenita, Subperioste... OMIM:259775
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Generalized osteosclerosis, Abnormal circulatin... OMIM:602398
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... ORPHA:2658
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Hypocalcemic seizures OMIM:612301
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Hyperoxaluria, Pathologic fracture OMIM:259900
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Abnormality of hair texture, Reduced bone mi... ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Recurrent fractures, Hypocalcemia, Osteopetrosis, Leukopenia, Elevated circula... ORPHA:2785
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Increased circulating free fatty a... OMIM:610768
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased ... ORPHA:71212
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... ORPHA:26793
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Generalized osteosclerosis, Hyperoxaluria ORPHA:416
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Williams Syndrome
Joint stiffness, Increased bone mineral density, Abnormal circulating lipid concentration, Osteop... ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Hypertrichosis, Splenopancreatic fusion, Hypoplastic ... OMIM:269150
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Goodpasture Syndrome
Anemia, Weight loss, Increased blood urea nitrogen OMIM:233450

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 Dop1b

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 Dop1b.

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

Title Journal IMPC Allele PubMed ID
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Dop1btm1a(EUCOMM)Wtsi PMC3996542

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Dop1btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter