Gene Summary

Name:
reculator of chromosome condensation 1 like
Synonyms:
5730496C04Rik,  Wbscr16

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased T cell number Rcc1ltm1a(EUCOMM)Hmgu HET Early adult 3.72×10-05
decreased prepulse inhibition Rcc1ltm1a(EUCOMM)Hmgu HET Early adult 9.19×10-05
increased startle reflex Rcc1ltm1a(EUCOMM)Hmgu HET   Early adult 1.79×10-05
decreased NK cell number Rcc1ltm1a(EUCOMM)Hmgu HET   Early adult 8.93×10-05
decreased circulating phosphate level Rcc1ltm1a(EUCOMM)Hmgu HET Early adult 3.63×10-05

Download data as:  TSV  XLS

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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.

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.

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 Similarity of
phenotypes
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
Rcc1ltm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rcc1ltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rcc1ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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