Gene Summary

Name:
ral guanine nucleotide dissociation stimulator-like 3
Synonyms:
1300003D20Rik

IMPC Data Collections

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 alkaline phosphatase level Rgl3em1(IMPC)H HOM Early adult 3.57×10-05
abnormal gait Rgl3em1(IMPC)H HOM Early adult 8.51×10-06
decreased circulating calcium level Rgl3em1(IMPC)H HOM Early adult 1.12×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Rgl3 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 Rgl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Falls, Hypocalcemia OMIM:615883
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Adamantinoma
Hypercalcemia ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Gait disturbance, Waddling gait ORPHA:1878
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:36913
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:93160
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Timothy Syndrome
Hypocalcemia OMIM:601005
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Hypocalcemia OMIM:618476
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Oncogenic Osteomalacia
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:352540
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Cholera
Hyponatremia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Lethargy ORPHA:173
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Tip-toe gait, Hypocalcemia ORPHA:746
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Writer's cramp, Hypocalcemia ORPHA:428
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... ORPHA:79444
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Visceral Steatosis, Congenital
Lethargy, Hypocalcemia OMIM:228100
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia OMIM:212750
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypophosphatasia
Hypercalcemia ORPHA:436
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... ORPHA:79443
Ethylene Glycol Poisoning
Hyperkalemia, Ataxia, Hypocalcemia ORPHA:31826
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Abnormal blood ion con... ORPHA:37042
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... ORPHA:466650
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Waddling gait, Hypophosphatemia OMIM:156400
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Ataxia, Hypocalcemia ORPHA:699
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Gitelman Syndrome
Hypermagnesemia, Hypocalcemia, Hypokalemia, Hypomagnesemia ORPHA:358
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:476126
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:277440
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia ORPHA:567
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Difficulty walking, Antalgic gait ORPHA:249
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Mastocytosis
Hypercalcemia ORPHA:98292
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Falls, Hypomagnesemia, Tip-toe gait, Broad-based gait, Hypocalcemia OMIM:619503
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Pheochromocytoma
Hypercalcemia OMIM:171300
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Charge Syndrome
Hypocalcemia OMIM:214800
Vipoma
Hypercalcemia, Hypokalemia ORPHA:97282
Ppoma
Hypercalcemia ORPHA:97278
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia OMIM:243800
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams Syndrome
Hypercalcemia, Gait disturbance, Gait imbalance, Abnormal circulating lipid concentration, Dysmet... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Lethargy ORPHA:652
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder, Gait imbalance OMIM:194050
Sarcoidosis
Hypercalcemia ORPHA:797
Sotos Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder 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 Rgl3

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 Rgl3.

No publications found that use IMPC mice or data for Rgl3.

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MGI Allele Allele Type Produced
Rgl3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rgl3em1(IMPC)H Exon Deletion Mice
Rgl3em2(IMPC)H Exon Deletion Mice
Rgl3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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