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Gene: Rpap3 MGI:1277218

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Gene Summary

Name:
RNA polymerase II associated protein 3
Synonyms:
D15Ertd682e,  2310042P20Rik

Order Alleles

IMPC Data Collections

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
abnormal testis morphology Rpap3em1(IMPC)Mbp HET Early adult 0.00
small testis Rpap3em1(IMPC)Mbp HET Early adult 0.00
decreased circulating phosphate level Rpap3em1(IMPC)Mbp HET Early adult 2.38×10-05
embryonic lethality prior to organogenesis Rpap3em1(IMPC)Mbp HOM   E9.5 0.00
decreased circulating glucose level Rpap3em1(IMPC)Mbp HET Early adult 2.43×10-05
abnormal thymus morphology Rpap3em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rpap3em1(IMPC)Mbp HOM   Early adult 0.00
decreased circulating calcium level Rpap3em1(IMPC)Mbp HET Early adult 5.17×10-07
enlarged thymus Rpap3em1(IMPC)Mbp HET Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Rpap3 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 Rpap3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese... ORPHA:2239
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating... OMIM:146200
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Insulin... OMIM:612526
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Hypogonadism ORPHA:163693
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:619073
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Parathyroid adenoma,... ORPHA:99879
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hyperplasia... OMIM:612089
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased proinsulin:insulin rati... ORPHA:94086
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hyper... OMIM:606407
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ... OMIM:601198
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemic tetany ORPHA:93324
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperpho... ORPHA:36913
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level OMIM:618618
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparath... ORPHA:2238
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin... ORPHA:94089
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati... OMIM:241410
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Hypercalc... OMIM:614732
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Hyperparathyroidism ORPHA:2668
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Iron deficiency anemia, Hypophosphatemia ORPHA:89937
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... ORPHA:140286
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus OMIM:616026
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr... OMIM:614736
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye... ORPHA:52901
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Mccune-Albright Syndrome
Decreased fertility, Increased serum testosterone level, Irregular menstruation, Pancytopenia, Ab... ORPHA:562
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism, Neonatal Severe
Calcinosis, Elevated circulating parathyroid hormone level, Anemia, Primary hyperparathyroidism, ... OMIM:239200
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia, Hyperphosph... ORPHA:2323
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia, Congenital hypoparathyroidism OMIM:244460
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Pancreat... OMIM:145001
Oculoskeletodental Syndrome
Hypocalcemia, Hypothyroidism, Hypercalcemia, Splenomegaly, Cryptorchidism OMIM:618440
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Abnormal vagina morphology ORPHA:2123
Granulomatous Slack Skin
Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Hypophosphat... OMIM:264700
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Hyperparathyroidism ORPHA:93160
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chr... ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Primary hyperparathyroidism OMIM:600740
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypothyroidism, Hypoparathyroidism ORPHA:1563
Cystinosis
Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Hypophosphatemia, T... ORPHA:213
Igg4-Related Thyroid Disease
Euthyroid goiter, Hypocalcemia, Sialadenitis, Thyroiditis, Abnormal pituitary gland morphology, T... ORPHA:64744
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Hypophosphate... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Hypocalcemia, Small scrotum, Hypoglycemia, Cryptorchidism, Micropenis OMIM:607143
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Anemia, Hypocalcemia, Hyperphosphatemia OMIM:127000
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Timothy Syndrome
Hypocalcemia, Hypoglycemia, Hypothyroidism OMIM:601005
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hypophosphatemic rickets, Increased circulating beta-C-t... ORPHA:157215
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, H... ORPHA:1655
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi... OMIM:618183
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Leukocytosis... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypocalcemic seizu... OMIM:277440
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Hepatosplenomegaly, Abn... OMIM:307800
Hemochromatosis, Type 1
Glucose intolerance, Azoospermia, Impotence, Diabetes mellitus, Increased circulating iron concen... OMIM:235200
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Hypogon... OMIM:103580
Fanconi Renotubular Syndrome 1
Glycosuria, Hypophosphatemia, Hypokalemia OMIM:134600
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:156400
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate... ORPHA:79444
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Fasting hypoglycemia, Hypouricemia, Hyperbi... OMIM:227810
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism, Micrope... OMIM:235255
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemi... OMIM:131100
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Fanconi Renotubular Syndrome 2
Glycosuria, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:613388
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia ORPHA:280062
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Abnormal circulating c... OMIM:241530
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hypoglycemia, Hyper... OMIM:617872
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neoplasm, Primary h... ORPHA:99880
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia, Elevated circulating parathyroid hormo... OMIM:617994
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Hypomagnese... OMIM:619743
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicu... ORPHA:143
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoparathyroidism, Hypoketotic hypoglycemia ORPHA:746
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Anemia, Hypokalemia, P... ORPHA:699
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Celiac Disease, Susceptibility To, 1
Delayed puberty, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Thyroiditis, Infertilit... OMIM:212750
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Central hypothyroidism, E... OMIM:616113
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Hyperu... ORPHA:199299
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Glycosuria, Hypophosphatem... ORPHA:411634
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus, Hypoparathyroidism ORPHA:3426
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate... ORPHA:79443
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp... OMIM:262190
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia, Hyperparathyroidism OMIM:211900
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... ORPHA:94093
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitr... OMIM:219800
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Abnormal circulating follicle-stimu... ORPHA:93325
Gitelman Syndrome
Delayed puberty, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Iron deficiency an... ORPHA:358
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Velocardiofacial Syndrome
Hypocalcemia, Cryptorchidism, Hypoparathyroidism OMIM:192430
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter... ORPHA:90790
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Erectile dysfunction, Decreased libido, Infertility, Hypothyroid... ORPHA:465508
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency OMIM:240200
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Elevated circulating 21-d... OMIM:201910
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder, Cryp... ORPHA:163979
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Imp... OMIM:201810
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Hypokalemia, Glycosuria, Hypophosphatemia, Abnormal blood ion ... ORPHA:411629
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Increased level of galactitol in plasma, Hyper... ORPHA:79237
Dent Disease 1
Glycosuria, Hypophosphatemia OMIM:300009
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Hypercalcemia OMIM:143880
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Craniofacioskeletal Syndrome
Hypocalcemia, Cryptorchidism, Hypospadias, Absent gallbladder OMIM:300712
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly OMIM:617913
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased ... OMIM:617053
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Acute Adrenal Insufficiency
Hyperkalemia, Delayed puberty, Normocytic anemia, Hyperuricemia, Adrenal hypoplasia, Androgen ins... ORPHA:95409
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Vaginal neoplasm, Abnormal prostate morphology, Prosta... ORPHA:2126
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Pancreatic ... ORPHA:552
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Fasting hypoglycemia, Bile duct proliferation, Splenomegaly, Hypoglycemia OMIM:613027
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Lymphopenia, Hypoalbuminemia, Hypoglycemia, C... OMIM:617575
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Sma... OMIM:613658
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Normochromic anemia, Hypokale... ORPHA:97282
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypophosphatemia, Hypoglycemia OMIM:229600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hyperaldosteronism, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,... ORPHA:534
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Hyponatremia, Decreased circula... ORPHA:199296
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, O... ORPHA:786
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia ORPHA:667
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Opsismodysplasia
Hypophosphatemia OMIM:258480
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Diabetes mellitus, Hemo... ORPHA:544482
Somatostatinoma
Neoplasm of the pancreas, Hypochromic microcytic anemia, Increased circulating gonadotropin level... ORPHA:97283
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Bone marr... ORPHA:2785
Hypophosphatasia, Infantile
Anemia, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,... OMIM:222300
Liver Disease, Severe Congenital
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalani... OMIM:619991
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyr... ORPHA:567
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97278
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Glucocorticoid Deficiency 2
Abnormal circulating renin, Bilateral cryptorchidism, Decreased circulating cortisol level, Recur... OMIM:607398
Digeorge Syndrome
Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypop... OMIM:188400
Raine Syndrome
Hypophosphatemia OMIM:259775
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypomagnesemia 3, Renal
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Increased circulating beta... OMIM:248250
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Delayed puberty, Episodic hemolytic anemia ORPHA:251004
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Hennekam Syndrome
Hypocalcemia, Lymphadenopathy, Splenomegaly, Lymphopenia ORPHA:2136
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Normochromic anemia, Adrenoco... ORPHA:97280
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Monosomy 13Q34
Metrorrhagia, Insulin resistance, Hypercalcemia ORPHA:96168
Dent Disease
Glycosuria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97261
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Hypercal... ORPHA:276621
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Hypocalcemia, Primary hypothyroidism, Hy... OMIM:243800
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:214800
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... ORPHA:29073
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Cervical neoplasm, Pheochromocytoma, Thyroid C ce... ORPHA:653
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased ser... OMIM:601678
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Elevated... ORPHA:29072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Hypocalcemia, Thyro... OMIM:619503
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Precocious puberty, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Hyperuricemia OMIM:300322
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Small scrotum OMIM:620330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Anemia, Leukocytosis, Thrombocytopenia, Hyperphosphatemia, Elevated circulating cre... ORPHA:340
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Anemia, Lymphadenopathy, Abnormal ly... ORPHA:797
Steinert Myotonic Dystrophy
Decreased fertility, Non-medullary thyroid carcinoma, Decreased response to growth hormone stimul... ORPHA:273
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Splenomegaly OMIM:612301
Williams Syndrome
Abnormal circulating lipid concentration, Cholelithiasis, Hypoplasia of penis, Elevated circulati... ORPHA:904
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Sotos Syndrome
Neonatal hypoglycemia, Hypospadias, Phimosis, Hypothyroidism, Acute lymphoblastic leukemia, Hyper... ORPHA:821
Proteus Syndrome
Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged polycystic ovarie... ORPHA:744
Williams-Beuren Syndrome
Glucose intolerance, Hypothyroidism, Early onset of sexual maturation, Hypercalcemia, Diabetes me... OMIM:194050

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 Rpap3

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 Rpap3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The HSP90/R2TP assembly chaperone promotes cell proliferation in the intestinal epithelium. Nature communications (August 2021) Rpap3tm1a(KOMP)Wtsi PMC8355188

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rpap3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpap3tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Rpap3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Rpap3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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