Gene Summary

argonaute RISC catalytic subunit 1
Eif2c1,  argonaute 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, incomplete penetrance Ago1tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased hematocrit Ago1tm1a(KOMP)Wtsi HOM Early adult 2.90×10-05
increased circulating calcium level Ago1tm1a(KOMP)Wtsi HOM   Early adult 1.95×10-06
abnormal behavior Ago1tm1a(KOMP)Wtsi HOM Early adult 5.22×10-05
decreased total body fat amount Ago1tm1a(KOMP)Wtsi HOM Early adult 3.00×10-06
decreased body weight Ago1tm1a(KOMP)Wtsi HOM Early adult 5.58×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Ago1 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 Ago1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hypercalcemia ORPHA:55881
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Thrombocytopenia ORPHA:69077
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypercalcemia, Failure to thrive in infancy, Anemia ORPHA:436
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Splenomegaly, Hype... OMIM:612526
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Increased body weight ORPHA:94086
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Hypophosphatasia, Infantile
Hypercalcemia, Failure to thrive, Anemia, Stillbirth, Elevated plasma pyrophosphate OMIM:241500
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Splenomegaly, Hypocalcemia ORPHA:172
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Failure to thrive, Hypophosphatemia, Anemia, Splenomegaly OMIM:239200
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... ORPHA:398063
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Hyperuricemia, Hypercholesterolemia, H... ORPHA:90041
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Oculocerebrodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Hypocalcemia ORPHA:100025
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea... ORPHA:251004
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Splenomegaly, Hypocalcemia, Elbow flexion contracture OMIM:618440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Failure to thrive, Weight loss... ORPHA:199299
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis ORPHA:2591
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia, Cellulitis ORPHA:47
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Hyp... ORPHA:95409
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Hip contracture, Knee flexion contracture OMIM:156400
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Osteopetrosis, Autosomal Recessive 5
Anemia, Stillbirth, Hyperbilirubinemia, Splenomegaly, Decreased osteoclast count, Extramedullary ... OMIM:259720
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Weight loss, Anemia, Hype... ORPHA:88673
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Thi... ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... OMIM:601678
Parathyroid Carcinoma
Hypercalcemia, Chondrocalcinosis, Weight loss, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:143
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypercalcemia, Hypokalemia, Weight loss, Normochromic anemia, Subcutaneous lipoma ORPHA:97282
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... ORPHA:90362
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia OMIM:259700
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Hypercalcemia, Acanthocytosis, Weight loss, Normochromic anemia, Subcutaneous lipoma ORPHA:97280
Hypercalcemia, Weight loss, Hypochromic microcytic anemia, Subcutaneous lipoma ORPHA:97283
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Monosomy 13Q34
Obesity, Infantile hypercalcemia ORPHA:96168
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma ORPHA:99880
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Lipoma, Multiple lipomas ORPHA:913
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia, Obesity ORPHA:369837
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia OMIM:127000
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Subcutaneous lipoma OMIM:131100
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Hypocalcemia OMIM:607143
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Failure to thrive, Iron deficiency anemia, Weight loss, Enamel... OMIM:212750
Hypercalcemia, Weight loss, Subcutaneous lipoma ORPHA:97261
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Hypophosphatemic Rickets
Hypercalcemia, Failure to thrive, Hypophosphatemia, Odontodysplasia, Enthesitis ORPHA:437
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in p... ORPHA:37042
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemia ORPHA:289157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Hypercalcemia OMIM:171300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... ORPHA:36234
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Subcutaneous lipoma ORPHA:276152
Hypercalcemia, Scarring, Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopeni... ORPHA:797
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Splenomegaly, Inguinal hernia, Hypocalcemia OMIM:235255
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Weight loss, Multiple lipomas ORPHA:652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pearson Syndrome
Neutropenia, Hypokalemia, Small for gestational age, Hypophosphatemia, Anemia, Hyperalaninemia, H... ORPHA:699
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Elevated circulating creatine kinase concentration, Failure to thrive, Anemia, Hypoca... ORPHA:2785
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Inguinal hernia ORPHA:1655
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Abnormal circulating lipid concentration, Elevated c... ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Weight loss, Chorioretinal scar, Elevated circulating crea... ORPHA:91500
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... ORPHA:79443
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, S... OMIM:613658
Williams-Beuren Syndrome
Hypercalcemia, Failure to thrive in infancy, Inguinal hernia, Flexion contracture, Obesity, Umbil... OMIM:194050
Cartilage-Hair Hypoplasia
Failure to thrive, Neutropenia, Anemia, Hypocalcemia ORPHA:175
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Iron deficiency anemia, Hypomagnesemia, Hypoca... ORPHA:358
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia ORPHA:428
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia ORPHA:73224
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Failure to thrive, Coombs-positive he... ORPHA:83471
Sotos Syndrome
Hypercalcemia, Ankle flexion contracture, Acute lymphoblastic leukemia, Bilateral camptodactyly, ... ORPHA:821
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Visceral Steatosis, Congenital
Neonatal death, Hypocalcemia OMIM:228100
22Q11.2 Deletion Syndrome
Thrombocytopenia, Failure to thrive, Hypoplasia of the thymus, Abnormal dental enamel morphology,... ORPHA:567
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Anemia, Hypocalcemia ORPHA:667
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hennekam Syndrome
Splenomegaly, Lymphopenia, Camptodactyly of finger, Hypocalcemia ORPHA:2136
Acrodysostosis With Multiple Hormone Resistance
Obesity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia OMIM:218330
Digeorge Syndrome
Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... OMIM:619503
Johanson-Blizzard Syndrome
Failure to thrive, Increased VLDL cholesterol concentration, Small for gestational age, Hypocalcemia OMIM:243800
Charge Syndrome
Omphalocele, Lymphopenia, Umbilical hernia, Hypocalcemia OMIM:214800


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 Ago1

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 Ago1.

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

Title Journal IMPC Allele PubMed ID
MicroRNAs 24 and 27 Suppress Allergic Inflammation and Target a Network of Regulators of T Helper 2 Cell-Associated Cytokine Production. Immunity (February 2016) Ago1tm1a(KOMP)Wtsi PMC4838571

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MGI Allele Allele Type Produced
Ago1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ago1tm36769(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ago1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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