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Gene: Drg2 MGI:1342307

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

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

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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.

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
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... ORPHA:157215
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Decreased circulating cop... ORPHA:48818
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... OMIM:241530
Cystinosis
Hypokalemia, Gait disturbance, Hypophosphatemia ORPHA:213
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short 4th metacarpal, S... OMIM:118651
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... ORPHA:247234
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Akinesia, Dystonia OMIM:300894
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures ORPHA:36913
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... OMIM:609616
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Perry Syndrome
Tremor, Short stepped shuffling gait, Akinesia, Dystonia OMIM:168605
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia ORPHA:289157
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, Flat acetabular roof, Cone-s... OMIM:184260
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia OMIM:606693
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... OMIM:146000
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Coronal craniosynos... OMIM:614078
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... OMIM:618363
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Manganese Poisoning
Postural tremor, Gait disturbance, Akinesia, Dystonia ORPHA:306682
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... ORPHA:93346
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia OMIM:618249
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Osteoporosis, Rickets OMIM:560000
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Congenital Myopathy 9A
Akinesia OMIM:618822
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Dysphagia, Short long bone, Camptodactyly OMIM:619751
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia ORPHA:249
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia ORPHA:97349
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets, Anorexia OMIM:611590
Autosomal Dominant Hypocalcemia
Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ... ORPHA:1901
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... ORPHA:79102
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Wide distal femoral metaphysis, Delayed epiphys... OMIM:613320
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Opsismodysplasia
Hypophosphatemia OMIM:258480
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Osteopor... ORPHA:2176
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Desbuquois Dysplasia 2
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Met... OMIM:615777
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Small for gestational age, Recurrent fra... OMIM:616229
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnormal iliac win... ORPHA:15
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype... ORPHA:94093
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra... OMIM:618961
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... ORPHA:93352
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Pearson Syndrome
Ataxia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S... ORPHA:93316
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Raine Syndrome
Hypophosphatemia OMIM:259775
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Akinesia OMIM:619147
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Flexion contracture, Flared metaphysis, Premature osteo... OMIM:215150
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde... ORPHA:94068
Celiac Disease, Susceptibility To, 1
Ataxia, Osteoporosis, Rickets, Weight loss, Depression, Failure to thrive OMIM:212750
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Stuve-Wiedemann Syndrome 1
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Cl... OMIM:601559
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Hereditary Late-Onset Parkinson Disease
Resting tremor, Shuffling gait, Akinesia, Dystonia ORPHA:411602
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp... OMIM:614524
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Autosomal Recessive Malignant Osteopetrosis
Tremor, Hypocalcemia, Hypophosphatemia ORPHA:667
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis OMIM:609454
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Pain insensitivity, Congenital hip dislocation, Joint hypermobility, Tapered finger, ... OMIM:616007
Xylt1-Cdg
Joint laxity, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck... ORPHA:370930
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... OMIM:271640
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Metaphyseal widening, Limitation of joint mobility, A... OMIM:224400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... OMIM:151210
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior ORPHA:309246
Rhyns Syndrome
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly OMIM:602152
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:79444
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Pseudohypoparathyroidism Type 1A
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst... ORPHA:79443
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi... OMIM:215140
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat... ORPHA:93315
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation ORPHA:100924
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Limited elbow extension, Flare... OMIM:618019
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Short lo... OMIM:200610
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia OMIM:234200
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... ORPHA:845
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hand tremor OMIM:618947
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... OMIM:231050
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Brachydactyly, Abnormally ossified vertebrae, Abnormal distal phalanx morphology of f... ORPHA:2636
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... ORPHA:93357
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Polyd... ORPHA:18
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... OMIM:618188
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Camptodactyly of finger, Aggressive behavior, Hip dislocation, R... OMIM:309000
Myhre Syndrome
Vertebral fusion, Overlapping toe, Ataxia, Small for gestational age, Joint stiffness, Short toe,... OMIM:139210
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Dpagt1-Cdg
Tremor, Inability to walk, Ataxia, Akinesia ORPHA:86309
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Wilson Disease
Osteomalacia, Hypoesthesia, Osteoarthritis, Osteoporosis, Dysphagia, Joint hypermobility OMIM:277900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Hyperactivity, Broad hallux, Impulsivity, Aggressive behavior, Avascular necrosis o... ORPHA:353281
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Failu... OMIM:613658
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Syndactyly, Hyperactivity, Br... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Syndactyly, Hyperactivity, Br... ORPHA:353277
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
African Trypanosomiasis
Akinesia, Tremor, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Osteomalacia, Stippled calcification of the shoulder, Abnormal calc... ORPHA:51608
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Anorexia, Weight loss, Arthritis OMIM:619381
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Decreased serum iron, Inability to walk, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
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.

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
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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