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Gene: Rwdd2a MGI:1916769

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Gene Summary

Name:
RWD domain containing 2A
Synonyms:
1700030C20Rik,  Rwdd2

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
decreased circulating calcium level Rwdd2aem1(IMPC)J HOM Early adult 6.92×10-10
decreased leukocyte cell number Rwdd2aem1(IMPC)J HOM Early adult 3.96×10-08
decreased bone mineral density Rwdd2aem1(IMPC)J HOM Early adult 7.53×10-05
decreased bone mineral content Rwdd2aem1(IMPC)J HOM Early adult 4.87×10-06
decreased lean body mass Rwdd2aem1(IMPC)J HOM Early adult 8.68×10-06

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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.

Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Skull Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rwdd2a 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 Rwdd2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... OMIM:259700
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... ORPHA:93160
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany OMIM:612462
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Weight loss, Anemia, Arthritis, Hypocalcemi... ORPHA:47
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive OMIM:602361
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... ORPHA:90362
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures, Anemia ORPHA:436
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy... OMIM:259720
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypocalcemia, Hypophosphat... ORPHA:352540
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Thro... OMIM:212750
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia OMIM:618440
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... ORPHA:37042
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... ORPHA:79444
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Abscess, Elevated circulating creatine kinase concentration, Elevated circulating ... ORPHA:36234
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... ORPHA:79443
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Rickets, Red... OMIM:613658
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Timothy Syndrome
Hypocalcemia OMIM:601005
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Anemia, Le... ORPHA:2785
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Neutropenia, Joint hyperflexibility, Hypocalcemia, Abnormal bone o... ORPHA:175
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Failure to thrive... OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... OMIM:156400
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia OMIM:600740
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Failure to thrive, Eosinophilia, Hypercalcemi... ORPHA:199299
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity, Increased blood urea nitrogen, Epi... ORPHA:251004
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Weight loss ORPHA:97289
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Splenomegaly, Hypomagnesemia, Hypophosp... ORPHA:699
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemi... ORPHA:93325
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:277440
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a... ORPHA:544482
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Hypocalcemia, Lymphopenia ORPHA:2136
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:163979
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Gitelman Syndrome
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure... ORPHA:358
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Cranioectodermal Dysplasia 1
Joint laxity, Osteoporosis, Hypocalcemia, Sagittal craniosynostosis OMIM:218330
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopeni... OMIM:619991
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
22Q11.2 Deletion Syndrome
Splenomegaly, Obesity, Multiple suture craniosynostosis, Arthritis, Joint hyperflexibility, Hypop... ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Addison Disease
Normocytic anemia, Hyponatremia, Failure to thrive, Hypercalcemia, Thiamine-responsive megaloblas... ORPHA:85138
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... ORPHA:95409
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Joint hypermobility ORPHA:369837
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hip contracture, Hemolytic anemia, Hyperextensibility of the finger joints, Flexion... OMIM:619503
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Monosomy 13Q34
Hypercalcemia, Obesity ORPHA:96168
Parathyroid Carcinoma
Weight loss, Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Digeorge Syndrome
Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia OMIM:188400
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Hypocalcemia OMIM:620330
Pheochromocytoma
Hypercalcemia OMIM:171300
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Johanson-Blizzard Syndrome
Joint laxity, Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800
Sarcoidosis
Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Bone cyst, Weight loss, An... ORPHA:797
Glucagonoma
Normochromic anemia, Weight loss, Hypercalcemia, Acanthocytosis ORPHA:97280
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Weight loss ORPHA:97283
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Osteolysis, Weight loss, Increased susceptibility to fractures, Reduced bone miner... ORPHA:652
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss ORPHA:913
Grfoma
Hypercalcemia, Weight loss ORPHA:97261
Multiple Endocrine Neoplasia Type 2
Joint laxity, Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Failure to thrive in infancy, Hypercalcemia, Flexion contracture, Osteo... OMIM:194050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Sotos Syndrome
Joint laxity, Hip contracture, Hypercalcemia, Ankle flexion contracture, Craniosynostosis, Bilate... ORPHA:821

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 Rwdd2a

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 Rwdd2a.

No publications found that use IMPC mice or data for Rwdd2a.

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
Rwdd2atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rwdd2atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rwdd2aem1(IMPC)J Exon Deletion Mice

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