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Gene: Dbndd2 MGI:106562

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Gene Summary

Name:
dysbindin domain containing 2
Synonyms:
2900022J10Rik,  1110017A21Rik,  dysbindin (dystrobrevin binding protein 1) domain containing 2,  NKIP,  D2Bwg0891e

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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
small testis Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged urinary bladder Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating creatinine level Dbndd2tm1b(EUCOMM)Wtsi HOM   Early adult 8.31×10-05
decreased prepulse inhibition Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 2.55×10-08
small epididymis Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 0.00
short tibia Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 3.46×10-06
thrombocytosis Dbndd2tm1b(EUCOMM)Wtsi HOM Early adult 7.60×10-05

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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 Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Histopathology

Images

3 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Dbndd2 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 Dbndd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... OMIM:616689
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Thrombocythemia 2
Thrombocytosis OMIM:601977
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Thrombocythemia 3
Thrombocytosis OMIM:614521
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Immunodeficiency 27A
Anemia, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly, Hypoalbum... OMIM:209950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Knee fle... OMIM:604416
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper... OMIM:617872
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, A... OMIM:614034
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Clubbing of fingers, Clubbing, Hypoproteinemia, Hyp... OMIM:226300
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Hypocalcemia, Short tibia, Short r... OMIM:607143
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Hepatomegaly, Rhizomelia, Glomerulonephr... OMIM:614376
Slc35A2-Cdg
Transient nephrotic syndrome, Elevated circulating thyroid-stimulating hormone concentration, Hip... ORPHA:356961
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Metaphyseal sclerosis, Clubbing of fingers, Abnormality of th... ORPHA:2905
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplas... OMIM:620076
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal ... ORPHA:1988
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612925
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Enlarged kidney, Polycystic kid... OMIM:613091
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Camptodactyly, Hypothyroidism, Thrombocytopenia, Decreased circulating T4 c... OMIM:608104
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Immunodeficiency 92
Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop... OMIM:619652
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Interstitial Lung And Liver Disease
Hepatomegaly, Anemia, Clubbing, Hypothyroidism, Hyperammonemia, Thrombocytosis, Aminoaciduria OMIM:615486
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short tibia, ... OMIM:616300
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Elevated cir... OMIM:614817
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... ORPHA:85188
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Thrombocytosis, Ketonuria ORPHA:134
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Renal insufficiency, Glycosuria, Hyperphosphaturia, Elevated ci... OMIM:615605
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypergonadotropi... OMIM:212065
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Diamond-Blackfan Anemia
Triphalangeal thumb, Hypospadias, Normochromic anemia, Acute myeloid leukemia, Erythroid hypoplas... ORPHA:124
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Thrombocytosis, Hyperga... OMIM:222470
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Decreased fertility,... OMIM:313200
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Elevated circulating... ORPHA:567544
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Type I diabetes mellitus, Thr... ORPHA:275555
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Sandal gap... OMIM:618885
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Triphalangeal thumb,... OMIM:105650
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Leukopenia, Lymphopenia, Thrombocy... OMIM:615934
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, 3-Methylglutaric aciduria, Leu... ORPHA:20
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Hemolytic-uremic syndrome, Anemia, Short long bone, Lymphopenia, Schis... OMIM:301110
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Thyroiditis, Infertilit... OMIM:212750
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Pes cavus, Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hor... OMIM:308700
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Relapsing Fever
Acute kidney injury, Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Le... ORPHA:91547
Autoerythrocyte Sensitization Syndrome
Hematuria, Impaired platelet adhesion, Menorrhagia, Autoimmune thrombocytopenia, Thrombocytosis, ... ORPHA:324636
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Primary testicular failure, Decreased glom... ORPHA:85450
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Kallmann Syndrome With Spastic Paraplegia
Pes cavus, Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentr... OMIM:308750
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Dislocated ra... OMIM:164745
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Reticulocytosis, Increased blood urea nitrogen, Microscopic hematuria,... OMIM:274150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Polycystic kidney dys... OMIM:263520
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal in... OMIM:619468
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Short... OMIM:258315
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Hypothyroidism, Sidero... OMIM:222300
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Elevated circulating creatinine concentrati... OMIM:620366
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Hypop... ORPHA:2751
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Impotence, Diabetes mellitus, Increased circulating iron concentration... OMIM:235200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Rickets of the lower... OMIM:600785
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Amelia, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Membrano... ORPHA:329918
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukoc... OMIM:615688
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Elevated circulating C-reactive protein concentration, Thrombocytosis, Lymph... OMIM:301074
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Fibular bowing, Genu va... OMIM:307800
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th f... OMIM:305400
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, L... OMIM:616733
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Diffuse Alveolar Hemorrhage
Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c... ORPHA:90060
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Long toe, Elevated circulati... OMIM:608836
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Impotence, Elevated circulating creatinine concentration, Acut... ORPHA:49041
Syndromic Diarrhea
Abnormality of iron homeostasis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thy... ORPHA:84064
Brucellosis
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Knee osteoarthritis,... ORPHA:1304
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Decreased numbers of nephrons, Epididymal cyst, Elevated circulating creati... OMIM:137920
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Anemia, Clubbing, Myeloproliferative disorder, Leukocytosis, Swelling of proximal... ORPHA:3260
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ab... ORPHA:1788
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric... OMIM:174000
Doors Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, 11 pairs ... ORPHA:79500
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Erectile dysfunction, Decreased libi... ORPHA:465508
Lesch-Nyhan Syndrome
Podagra, Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria,... OMIM:300322
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypokalemia, Polycystic kidney dysplasia, Multiple renal cysts, Elevated circulatin... OMIM:613095
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Fibular bowing, Chronic kidney diseas... OMIM:300554
Seckel Syndrome 1
Clitoral hypertrophy, Talipes, Hypospadias, Sandal gap, Cone-shaped epiphyses of the phalanges of... OMIM:210600
Dent Disease 1
Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300009
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi... OMIM:266900
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasi... OMIM:274000
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis, Anoperineal fistula OMIM:618213
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Cryptorchidism, Mesomelic leg shortening, Syndactyly, Preaxial hand polydact... OMIM:603671
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Bicornuate uteru... ORPHA:958
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Absent nipple, Polycystic kidney dysplasia, Spl... OMIM:200980
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... OMIM:208500
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Tibial Hemimelia
Absent tibia OMIM:275220
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Leukocytosis, Unconjugated hyperbilirubinemia, Reticulo... ORPHA:90038
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Hypomagnesemia 3, Renal
Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concen... OMIM:248250
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Proteinuria, Elevated circulating c... ORPHA:247691
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the tibia, Hypopituitar... ORPHA:1827
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Leukocytosis, Plantar edema, Proteinuria, ... ORPHA:2331
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Access... OMIM:236680
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Retrograde ejaculation, Increased blood urea nitrogen, Elevated urinary... ORPHA:230
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Hyperlipidemia, Proteinuria, Chronic kid... ORPHA:439232
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Abnormality of the lower limb, Increased... ORPHA:36234
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Cousin Syndrome
Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, Me... OMIM:260660
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Oligomeganephronia
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Unilateral r... ORPHA:2260
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Igg4-Related Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu... ORPHA:449395
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ... ORPHA:542323
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Leukocyte Adhesion Deficiency
Vaginitis, Hemolytic-uremic syndrome, Acute myeloid leukemia, Hyperinsulinemic hypoglycemia, Impa... ORPHA:2968
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadenoma of the epididymis... OMIM:193300
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Multiple Myeloma
Acute kidney injury, Anemia, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hyperproteinemia, E... ORPHA:29073
Charge Syndrome
Delayed puberty, Absent tibia, Lymphopenia, Bifid femur, Absent radius, Hypoplasia of the ulna, D... OMIM:214800
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal lymphocyte morpholo... ORPHA:99826
Orofaciodigital Syndrome Type 4
Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, Postaxial hand polydactyly... ORPHA:2753
Floating-Harbor Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thumb, Nephroca... OMIM:136140
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Hyp... OMIM:304120
Pauci-Immune Glomerulonephritis
Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ... ORPHA:93126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Pes cavus, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism,... OMIM:157640
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Short ribs, Short metacarpal, Mesomelia, Short humerus, Abnormal forearm bo... ORPHA:3404
Von Hippel-Lindau Disease
Distal lower limb muscle weakness, Elevated urinary catecholamine level, Neoplasm of the pancreas... ORPHA:892
Yellow Fever
Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati... ORPHA:99829
Floating-Harbor Syndrome
Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenital posterior urethral valve, ... ORPHA:2044
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hepatomegaly, Hypocalcemia, Broad toe... OMIM:218330
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Slender toe, Ectopic kidney, Abnormality of the Leydig cells, Camptodactyly, Arachno... ORPHA:3063
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Normocytic anemia, Reduced hematocrit, Decreased glomerular fi... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Syndactyly, Splenomegaly, Dark urine, Stage 5 chronic kidney disease, Elevated circu... OMIM:619534
Steinert Myotonic Dystrophy
Decreased fertility, Abnormality of thyroid physiology, Male hypogonadism, Hyperinsulinemia, Decr... ORPHA:273
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Renal hypoplasia, Micrognathia, Mesomeli... OMIM:619297
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Decreased response to growth hormone stimulation test, Hypos... ORPHA:444077

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
Testis - MPATH pathological process term hypoplasia Dbndd2tm1b(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 Dbndd2.

No publications found that use IMPC mice or data for Dbndd2.

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
Dbndd2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dbndd2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dbndd2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Dbndd2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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