Gene Summary

Name:
DExD box helicase 52
Synonyms:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,  2700029C06Rik,  ROK1

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
increased startle reflex Ddx52tm1a(EUCOMM)Wtsi HET   Early adult 1.44×10-05
increased circulating phosphate level Ddx52tm1a(EUCOMM)Wtsi HET   Early adult 3.24×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Ddx52 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 Ddx52 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating ... ORPHA:94093
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Writer's cramp ORPHA:428
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79443
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Opsismodysplasia
Hypophosphatemia OMIM:258480
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Dent Disease 1
Hypophosphatemia OMIM:300009
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia ORPHA:411629
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Raine Syndrome
Hypophosphatemia OMIM:259775
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Tremor ORPHA:667
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hypophosphatemia ORPHA:534
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Tay-Sachs Disease
Dystonia, Increased serum beta-hexosaminidase, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
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
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Dystonia, Exaggerated startle response ORPHA:438213
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 Ddx52

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 Ddx52.

No publications found that use IMPC mice or data for Ddx52.

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MGI Allele Allele Type Produced
Ddx52tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ddx52tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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