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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
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
increased startle reflex	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.79×10^-05
decreased NK cell number	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	8.93×10^-05
decreased circulating phosphate level	Rcc1l^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.63×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

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 (208 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)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	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	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	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	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence...	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	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil...	ORPHA:158057
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
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
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra...	OMIM:616050
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess	OMIM:618108
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci...	OMIM:241600
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 19	Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology	OMIM:615617
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory...	OMIM:619510
Refractory Celiac Disease	Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ...	ORPHA:398063
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Immunodeficiency 76	Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia	OMIM:619164
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess	ORPHA:89937
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen...	ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Immunodeficiency 68	Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia	OMIM:612260
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells	OMIM:243700
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased...	OMIM:615513
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy...	ORPHA:94090
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo...	ORPHA:31824
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, Hypertriglyceridemia, T lymphocytopeni...	ORPHA:2442
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho...	OMIM:600802
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre...	OMIM:619743
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hyperparathyroidism, Neonatal Severe	Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly	OMIM:239200
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs...	OMIM:608233
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:264700
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea...	ORPHA:221139
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro...	OMIM:301074
Fanconi-Bickel Syndrome	Hypokalemia, Hypophosphatemia, Hypouricemia	OMIM:227810
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ...	ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf...	ORPHA:35078
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic seizures, Hypocalcemia	ORPHA:36913
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ...	OMIM:618986
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Immunodeficiency 55	Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Vitamin D-Dependent Rickets, Type 2A	Hypophosphatemia, Hypocalcemic seizures	OMIM:277440
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Hypouricemia	OMIM:616026
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt...	OMIM:300400
Hypocalcemic Vitamin D-Dependent Rickets	Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:289157
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Kenny-Caffey Syndrome, Type 2	Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyp...	ORPHA:99845
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hypocalcemia, Hyperkalemia, Elevated circula...	ORPHA:94093
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia...	ORPHA:158048
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Pearson Syndrome	Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen...	ORPHA:699
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine...	ORPHA:411634
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune...	ORPHA:572
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Dent Disease 1	Hypophosphatemia	OMIM:300009
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:619381
Hereditary Fructose Intolerance	Hypophosphatemia, Hyperuricemia, Hypermagnesemia	ORPHA:469
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia	OMIM:614207
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia	OMIM:615966
Mccune-Albright Syndrome	Hypophosphatemia, Pancytopenia	ORPHA:562
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ...	ORPHA:79102
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia	OMIM:612462
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre...	OMIM:613011
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ...	ORPHA:79124
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Writer's cramp, Fatigable weakness, Hypocalcemia, Hypomagnesemia	ORPHA:428
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hypophosphatemia, Tremor, Hypocalcemia, Splenomegaly	ORPHA:667
Infantile Nephropathic Cystinosis	Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration	ORPHA:411629
Alport Syndrome 3, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Primary Fanconi Renotubular Syndrome	Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur...	ORPHA:3337
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp...	OMIM:219800
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy...	ORPHA:94089
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Raine Syndrome	Hypophosphatemia	OMIM:259775
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Lymph...	OMIM:208900
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Familial Hypocalciuric Hypercalcemia	Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:405
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia, Thrombo...	ORPHA:534
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:606367
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Hypophosphatemic Rickets	Hypophosphatemia, Periapical tooth abscess, Hypercalcemia, Tooth abscess	ORPHA:437
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Calcinosis	OMIM:211900
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
X-Linked Hypophosphatemia	Hypophosphatemia, Tooth abscess	ORPHA:89936
Fructose Intolerance, Hereditary	Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia	OMIM:229600
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Pseudohypoparathyroidism Type 1C	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Laryngeal dystonia, Hypocalcemic seizures, Hy...	ORPHA:79444
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Immunodeficiency 40	Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia	OMIM:616433
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia	OMIM:239000
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy...	OMIM:608643
Pseudohypoparathyroidism Type 1A	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Choreoathetosis, Laryngeal dystonia, Hypocalc...	ORPHA:79443
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Hyperphosphatemia	ORPHA:457059
Stiff-Person Syndrome	Anemia, Exaggerated startle response, Opisthotonus	OMIM:184850
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:423
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany	ORPHA:93325
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Thymic Aplasia	Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of...	ORPHA:83471
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hemorrhagic Fever-Renal Syndrome	Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat...	ORPHA:340
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ...	ORPHA:508533
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration...	ORPHA:466650
Vici Syndrome	Leukopenia, T lymphocytopenia, Lymphopenia, Elevated circulating creatine kinase concentration, D...	OMIM:242840
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:607944
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Exaggerated startle response, Tremor	OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La...	ORPHA:845
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Agammaglobulinemia, X-Linked	Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia	OMIM:300755
Asparagine Synthetase Deficiency	Exaggerated startle response	OMIM:615574
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology	OMIM:618223
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia	OMIM:251260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia	ORPHA:280651
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
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, Decreased serum iron, Dystonia, Exaggerated startle response	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

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

There is no histopathology data for 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.

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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

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