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Gene: Rcc1l MGI:2137600

Gene Summary

Name:

reculator of chromosome condensation 1 like

Synonyms:

5730496C04Rik, Wbscr16

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased startle reflex	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.79×10^-05
decreased T cell number	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.72×10^-05
decreased prepulse inhibition	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	9.19×10^-05
decreased circulating phosphate level	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.63×10^-05
decreased NK cell number	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	8.93×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rcc1l 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 Rcc1l (0 diseases)
Human diseases predicted to be associated with Rcc1l (205 diseases)

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

The table below shows human diseases predicted to be associated to Rcc1l by phenotypic similarity.

Disease	Matching phenotypes	Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count	OMIM:609981
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94090
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:620133
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help...	ORPHA:221139
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:36913
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Neuroleptic Malignant Syndrome	Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Leuk...	ORPHA:94093
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Dent Disease 1	Hypophosphatemia	OMIM:300009
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el...	ORPHA:79102
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Autosomal Dominant Hypocalcemia	Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Autosomal Recessive Malignant Osteopetrosis	Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:94089
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne...	OMIM:219800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Ataxia-Telangiectasia	Elevated circulating alpha-fetoprotein concentration, Tremor, Choreoathetosis, T lymphocytopenia,...	OMIM:208900
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ne...	ORPHA:101096
Raine Syndrome	Hypophosphatemia	OMIM:259775
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi...	ORPHA:79444
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Pseudohypoparathyroidism Type 1A	Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst...	ORPHA:79443
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus, T lymphocytopenia,...	ORPHA:508533
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Vici Syndrome	Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D...	OMIM:242840
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy...	ORPHA:845
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Dystonia	ORPHA:79255
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rcc1l

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 Rcc1l.

No publications found that use IMPC mice or data for Rcc1l.

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
Rcc1l^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rcc1l^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Rcc1l^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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