Gene Summary

Name:
developmentally regulated GTP binding protein 2
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased circulating phosphate level Drg2tm1a(EUCOMM)Wtsi HOM   Early adult 6.11×10-05
long tibia Drg2tm1a(EUCOMM)Wtsi HET Early adult 5.66×10-05
decreased circulating triglyceride level Drg2tm1a(EUCOMM)Wtsi HET Early adult 3.29×10-05
abnormal locomotor activation Drg2tm1a(EUCOMM)Wtsi HOM Early adult 5.01×10-05
increased body length Drg2tm1a(EUCOMM)Wtsi HET Early adult 9.07×10-06
increased startle reflex Drg2tm1a(EUCOMM)Wtsi HOM   Early adult 1.92×10-05
decreased prepulse inhibition Drg2tm1a(EUCOMM)Wtsi HOM Early adult 6.50×10-05

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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.

Phenotype associated images not available

Human diseases caused by Drg2 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 Drg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Blepharospasm, Loss of ability to walk, Akinesia,... ORPHA:240094
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Irregular carpal bones, Abnormality ... ORPHA:750
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Joint stiffness, Avascular necr... ORPHA:93308
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Tibial bowing, Flared metaphysis, Shor... ORPHA:93356
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short femoral neck, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Sho... OMIM:271530
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the tibial metaphysis ORPHA:2768
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Akinesia, Tremor ORPHA:98773
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Resting tremor, Shuffling gait, Inability to walk, Akines... ORPHA:391411
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Irregular femoral epiphysis, Upper-limb metaphyseal irregularity, Short long bone, Lo... OMIM:618728
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Gait disturbance, Tremor ORPHA:454887
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Costal cartilage calcification, Short finger, Hip contr... OMIM:222600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased serum iron, Blepharospasm, Acer... ORPHA:48818
Spinocerebellar Ataxia 21
Dystonia, Intention tremor, Ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Limb at... OMIM:607454
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Cystinosis
Hypokalemia, Hypophosphatemia, Gait disturbance ORPHA:213
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Metaphyseal s... OMIM:608728
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short tibia, Short long bone, Short 3rd metacarpal, S... OMIM:118651
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Coxa valga, Short femoral neck, Obesi... OMIM:618363
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Spondylometaphyseal Dysplasia, Sedaghatian Type
Brachydactyly, Widened greater sciatic notch, Metaphyseal irregularity, Cone-shaped metacarpal ep... OMIM:250220
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300554
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:277440
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Flared metaphysis, Hip contracture, Short long bone, Delayed epiphyseal ossific... OMIM:601561
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Shuffling gait, Intention tremor, Abnormal vestibulo-ocular reflex, Ataxia, Akine... ORPHA:247234
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Fatigable weakness of swallowing mus... ORPHA:99845
Acromicric Dysplasia
Short palm, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fifth metacarpal wi... OMIM:102370
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures, Difficulty walking ORPHA:289157
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:36913
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Blepharospasm, Akinesia, Gait imbalance, Falls, Tremor ORPHA:240071
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossification, Delayed pubic b... ORPHA:93296
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Flared elbow metaphyses, Short long bone ORPHA:1423
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Kufor-Rakeb Syndrome
Dystonia, Akinesia, Ataxia, Gait disturbance, Torticollis, Tremor OMIM:606693
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Brachydactyly, Narrow iliac wing, Genu varum, Metaphyseal irregularity, Short long bone, Short pa... OMIM:250420
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Manganese Poisoning
Postural tremor, Dystonia, Akinesia, Gait disturbance ORPHA:306682
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Aplasia of the tarsal bones, Absent metatars... OMIM:200500
Perry Syndrome
Short stepped shuffling gait, Dystonia, Akinesia, Tremor OMIM:168605
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Ap... OMIM:113000
X-Linked Hypophosphatemia
Bowing of the long bones, Genu varum, Bowing of the legs, Craniosynostosis, Upper limb metaphysea... ORPHA:89936
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Limb dystonia OMIM:616840
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300009
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short long bone, Flared iliac wing, Short metacarpal, Epiphyseal stippling, A... OMIM:271665
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Ataxia, Rickets OMIM:560000
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Rhizomelic arm shortening, Cone-shaped epiphysis, Metaphyseal chond... ORPHA:93317
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Short long bone, Hypoplastic aceta... ORPHA:239
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Opsismodysplasia
Hypophosphatemia OMIM:258480
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Fibrous Dysplasia Of Bone
Antalgic gait, Hypophosphatemia, Difficulty walking, Hypercalcemia ORPHA:249
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Resting tremor, Hand tremor, Akinesia, Progressive cerebellar ataxia, La... ORPHA:99
Stuve-Wiedemann Syndrome 1
Osteoporosis, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Thickened cortex of... OMIM:601559
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Narrow iliac wing, Metaphyseal irregularity, Short femoral neck, Flared meta... OMIM:610442
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Coxa valga, Osteoporosis, Osteomalacia, Avascular necrosis of the ca... ORPHA:1901
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Decreased cranial base ossification, Metaphyseal cupp... OMIM:151210
Postencephalitic Parkinsonism
Akinesia, Tremor by anatomical site, Resting tremor, Oculogyric crisis ORPHA:97349
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Autosomal Dominant Hypocalcemia
Hypocalcemia, Fatigable weakness, Hyperphosphatemia, Hypomagnesemia, Writer's cramp ORPHA:428
Infantile Systemic Hyalinosis
Brachydactyly, Joint stiffness, Osteopenia, Recurrent fractures, Short palm, Osteoporosis, Increa... ORPHA:2176
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia ORPHA:411629
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Raine Syndrome
Hypophosphatemia OMIM:259775
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Squared iliac bones, Short long bone, Metaphyseal widening, Coarse metaphyseal tra... OMIM:618961
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Short long bone, Toe clinodactyly, Coxa valga,... OMIM:615777
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Exaggerated startle response ORPHA:3198
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Knee joint hypermobility, Hip joint hypermobilit... ORPHA:15
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating ... ORPHA:94093
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Short palm, Short long bone, Short metacarpal, Lar... OMIM:215150
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Premature osteoarthritis, Metaphyseal irregularity, Metaphyseal w... ORPHA:93352
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Pearson Syndrome
Hypokalemia, Hypocalcemia, Ataxia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Celiac Disease, Susceptibility To, 1
Anxiety, Osteoporosis, Ataxia, Failure to thrive, Depression, Weight loss, Rickets OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Osteopenia, Rickets OMIM:211600
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Upper limb undergrowth... ORPHA:94068
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Flexion contracture, Short palm, Short metacarpal, Short phalanx of finger, Single... OMIM:611717
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Hypoplastic iliac wing, Short long bone, Broad long bones, ... OMIM:200610
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Xylt1-Cdg
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Joint laxity, Truncal obesity, Fla... ORPHA:370930
Kniest Dysplasia
Joint stiffness, Metaphyseal widening, Abnormality of the epiphysis of the femoral head, Abnormal... ORPHA:485
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Long fibula, Abnormality of the metaphysis ORPHA:935
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Limb dystonia, Retrocollis, Gait imbalance, Falls, Tremor OMIM:601104
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Tremor ORPHA:667
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Increased serum pyruvate, Hyperalaninemia OMIM:619147
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Osteoporosis, Hallux valgus, Metaphyseal widening, Genu valgum, Hip dislocatio... OMIM:271640
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia OMIM:219800
Hereditary Late-Onset Parkinson Disease
Akinesia, Dystonia, Resting tremor, Shuffling gait ORPHA:411602
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hypophosphatemia ORPHA:534
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Bowing of the long bones, Metaphyseal widening, Broad long... OMIM:224400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... ORPHA:85167
Supranuclear Palsy, Progressive, 2
Axial dystonia, Akinesia, Retrocollis, Gait imbalance, Postural tremor, Falls OMIM:609454
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Occipital Horn Syndrome
Osteoporosis, Osteomalacia, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, Brachydactyly, ... ORPHA:198
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79444
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Greenberg Dysplasia
Multiple prenatal fractures, Decreased skull ossification, Absent distal phalanges, Brachydactyly... OMIM:215140
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Avascular necrosis of the capital femoral epiphysis, Metaphyseal irregu... ORPHA:93315
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Clinodactyly of the 5th finger, Hypoplastic s... OMIM:228520
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Recurrent fractures, Tracheomalacia, Fibular... ORPHA:140
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Irregular carpal bones, Soft tissue... OMIM:252600
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia OMIM:608013
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79443
Mucolipidosis Ii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Osteopenia, Flared iliac wing, Split hand, Hypoplastic s... OMIM:252500
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Failure to thrive, ... OMIM:615503
Arthrogryposis Multiplex Congenita 5
Hand tremor, Dystonia, Akinesia OMIM:618947
Geleophysic Dysplasia 1
Osteopenia, Camptodactyly of finger, Joint stiffness, Irregular capital femoral epiphysis, Coxa v... OMIM:231050
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... OMIM:613091
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short long bone, Aplastic pubic bones,... ORPHA:3003
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Tay-Sachs Disease
Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inability to walk, Gait disturbance, La... ORPHA:845
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Joint hypermobility, Osteomalacia, Failure to thrive, Pathologic fracture, C... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Osteopenia, Short palm, Abnormality ... ORPHA:2636
Sponastrime Dysplasia
Generalized joint laxity, Metaphyseal widening, Genu valgum, Hip dislocation, Brachydactyly, Flat... ORPHA:93357
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Akinesia, Ataxia, Gait disturbance, Tremor OMIM:234200
Wilson Disease
Joint hypermobility, Osteoarthritis, Osteoporosis, Osteomalacia OMIM:277900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Arthrogryposis multiplex congenita, ... ORPHA:2671
Myhre Syndrome
Brachydactyly, Clinodactyly, Joint stiffness, 2-3 toe syndactyly, Small for gestational age, Radi... OMIM:139210
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Osteomalacia, Failure to thrive, Reduced bone mineral dens... ORPHA:18
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Dpagt1-Cdg
Akinesia, Inability to walk, Ataxia, Tremor ORPHA:86309
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small for gestational age, Slender build, Joint laxity, Thin bony cortex, Failure to ... OMIM:613658
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
African Trypanosomiasis
Gait disturbance, Difficulty walking, Akinesia, Tremor ORPHA:3385
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Abnormal calcification of the carpal bones, Hypophosphatemic ricket... ORPHA:51608
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Decreased serum iron, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Weight loss, Arthritis, Osteomalacia OMIM:619381
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Drg2

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 Drg2.

No publications found that use IMPC mice or data for Drg2.

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MGI Allele Allele Type Produced
Drg2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Drg2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Drg2tm291(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Drg2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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