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Gene: Rnf214 MGI:2444451

Gene Summary

Name:

ring finger protein 214

Synonyms:

D130054N24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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	Allele	Zyg	Life Stage	P Value
increased circulating phosphate level	Rnf214^em1(IMPC)J	HOM	Early adult	3.82×10^-09
abnormal vocalization	Rnf214^em1(IMPC)J	HOM	Early adult	3.75×10^-09
hyperactivity	Rnf214^em1(IMPC)J	HOM	Early adult	1.98×10^-08
decreased mean corpuscular hemoglobin	Rnf214^em1(IMPC)J	HOM	Early adult	3.30×10^-05
increased circulating calcium level	Rnf214^em1(IMPC)J	HOM	Early adult	5.24×10^-08

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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.

Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Rnf214 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.

Human diseases associated with Rnf214 (0 diseases)
Human diseases predicted to be associated with Rnf214 (287 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rnf214 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Adamantinoma	Hypercalcemia	ORPHA:55881
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Schizophrenia 15	Hyperactivity	OMIM:613950
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia	OMIM:239200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Anemia, Anorexia	OMIM:241500
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Polyphagia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hypocalcemia	ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures	ORPHA:79444
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Anorexia, Hyperk...	ORPHA:199299
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde...	ORPHA:476126
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures	ORPHA:79443
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Oculoskeletodental Syndrome	Splenomegaly, Hypercalcemia, Hypocalcemia	OMIM:618440
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased c...	ORPHA:95409
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Addison Disease	Normocytic anemia, Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Thiamine-responsive megal...	ORPHA:85138
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Cystinosis	Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia	ORPHA:213
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypocalcemia	OMIM:606407
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior	OMIM:612716
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:99880
Pheochromocytoma	Hypercalcemia	OMIM:171300
Parathyroid Carcinoma	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:143
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Vipoma	Normochromic anemia, Hypokalemia, Hypercalcemia, Anorexia	ORPHA:97282
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Glucagonoma	Normochromic anemia, Hypercalcemia, Anorexia, Acanthocytosis	ORPHA:97280
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Anorexia	ORPHA:97283
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Ppoma	Hypercalcemia, Anorexia	ORPHA:97278
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Timothy Syndrome	Hypocalcemia	OMIM:601005
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Dysphagia, Hypophosphatemia, Anemia,...	ORPHA:699
Grfoma	Hypercalcemia, Anorexia	ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen...	ORPHA:37042
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia	OMIM:212750
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Hypocalcemia	OMIM:618476
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Infantile Nephropathic Cystinosis	Hypokalemia, Polydipsia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping	OMIM:617101
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Anemia, Leukopenia, Thromb...	ORPHA:797
Dent Disease 1	Hypophosphatemia	OMIM:300009
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Cystinosis, Nephropathic	Hyponatremia, Oral-pharyngeal dysphagia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphate...	OMIM:219800
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce...	ORPHA:330015
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia	ORPHA:652
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Thrombocytopenia, Self-injurious behavior, Hypokalemia, Attention de...	ORPHA:534
Williams Syndrome	Hypercalcemia, Elevated circulating creatine kinase concentration, Compulsive behaviors, Attentio...	ORPHA:904
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Ethylene Glycol Poisoning	Addictive alcohol use, Hyperkalemia, Hypocalcemia	ORPHA:31826
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Williams-Beuren Syndrome	Obsessive-compulsive trait, Hypercalcemia, Attention deficit hyperactivity disorder	OMIM:194050
Velocardiofacial Syndrome	Hypocalcemia, Aggressive behavior	OMIM:192430
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
Gitelman Syndrome	Salt craving, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia,...	ORPHA:358
Raine Syndrome	Hypophosphatemia	OMIM:259775
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Cartilage-Hair Hypoplasia	Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Sotos Syndrome	Acute lymphoblastic leukemia, Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive...	ORPHA:821
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormal hemoglobin, Anemia	ORPHA:847
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Hennekam Syndrome	Splenomegaly, Lymphopenia, Hypocalcemia	ORPHA:2136
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic m...	OMIM:301040
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
22Q11.2 Deletion Syndrome	Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Attention deficit hyperactivity disorder, T...	ORPHA:567
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Impulsivity, Hypomagnesemia, Dysphagia, Hepatosplenomegaly, Stereotypical body ...	OMIM:619503
Digeorge Syndrome	Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Attention deficit hyperactivity dis...	OMIM:188400
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Charge Syndrome	Self-mutilation, Lymphopenia, Hypocalcemia, Dysphagia	OMIM:214800
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800

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 Rnf214

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 Rnf214.

No publications found that use IMPC mice or data for Rnf214.

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
Rnf214^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rnf214^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rnf214^em1(IMPC)J	Exon Deletion	Mice
Rnf214^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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