Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
actin, beta
Synonyms:
Actx,  E430023M04Rik,  A-X actin-like protein,  beta-actin

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.

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 Actb 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.

The table below shows human diseases associated to Actb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Overfolded helix, Posteriorly rotated ears, Hearing impairment, Microtia OMIM:620475
Dystonia-Deafness Syndrome 1
Sensorineural hearing impairment OMIM:607371
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment ORPHA:79107
Baraitser-Winter Syndrome 1
Low-set ears, Overfolded helix, Sensorineural hearing impairment OMIM:243310
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Lipoatrophy ORPHA:64755
Becker Nevus Syndrome
Unilateral breast hypoplasia OMIM:604919
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive ORPHA:2995

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Abnorm... ORPHA:435660
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increas... OMIM:615238
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu... ORPHA:435651
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... OMIM:614962
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Chylomicron Retention Disease
Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Failure to thrive, Hypocholes... OMIM:246700
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Obesity And Hypopigmentation
Polyphagia, Obesity, Hyperinsulinemia OMIM:620195
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholester... OMIM:615703
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... OMIM:610883
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... OMIM:616858
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Loss of gluteal subcut... ORPHA:280356
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, Adrenal insuf... OMIM:609734
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98793
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177901
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia... ORPHA:96180
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Solitary Fibrous Tumor
Uterine neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Hypophosphatemic ricket... ORPHA:2126
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
X-Linked Acrogigantism
Ataxia, Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemi... ORPHA:300373
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi... OMIM:606407
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Ataxia,... OMIM:266510
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Polyphagia ORPHA:177910
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polyphagia, Primary a... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue,... OMIM:612526
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Squalene Synthase Deficiency
Bilateral cryptorchidism, Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in in... OMIM:618156
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... ORPHA:398069
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Hypobetalipoproteinemia, Familial, 1
Ataxia, Hypocholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Decre... OMIM:615558
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Umbilical hernia, Labial hypertrophy, Hyperinsulinemia, Reduced subcutaneou... OMIM:608594
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Polyphagia, H... ORPHA:739
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Polyphagia, Skin-picking, Ca... OMIM:615547
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Umbilical hernia, Labial hypertrophy, Hyperinsulinemia, Decreased fertility... OMIM:269700
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Liposarcoma
Sarcoma ORPHA:69078
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive, Impaired proprioception ORPHA:71
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... ORPHA:228402
Kleine-Levin Syndrome
Polydipsia, Decreased libido, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive com... ORPHA:33543
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N... ORPHA:83469
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia, Hydrocele testis, Neonatal death OMIM:618810
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Dysmetria, Abnormal subcutaneous fat tis... OMIM:212065
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Impaired vibratory sensation, Hypotriglyceridemia, Failure to thrive, Hy... ORPHA:14
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Intellectual Developmental Disorder, Autosomal Dominant 72
Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Shawl scrotum, M... OMIM:620439
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Cryptorchidism, ... ORPHA:79324
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Low plasma citrull... ORPHA:95427
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Labial pseudohypertrop... OMIM:151660
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str... ORPHA:44890
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Decreased female libi... ORPHA:251937
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... ORPHA:72
Pediatric-Onset Graves Disease
Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, Increased c... ORPHA:525731
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Incr... ORPHA:251004
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Impaired pain sensation, I... ORPHA:293987
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79444
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad... ORPHA:54595
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79443
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Increased c... OMIM:615363
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Polyphagia, Aggressive behavior OMIM:616831
Ovarian Fibrothecoma
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Hyperkalemia, Neona... ORPHA:90794
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Wagro Syndrome
Hypoplastic female external genitalia, Decreased testicular size, Obesity, Polyphagia, Aggressive... OMIM:612469
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder, Bilateral cryptorchidism ORPHA:1715
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Clitoral hypertrophy, Hypoplastic labia majora, Failure to thrive OMIM:244450
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Hyperammonemia, Stereotypical hand wringing, ... ORPHA:778
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Hypoalbuminemia, Failure to thrive, Bifid scrotum, Hypocholest... OMIM:270400
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia, Cryptorchidism, Hyperactivity, Hypospadias OMIM:223370
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Dysdiadochokinesis, Failure to thrive, Decreased ad... OMIM:606721
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Aplasia/hypoplasia of the uterus, Obesity, Congenital diaphragmatic hern... ORPHA:96121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Cryptorchidism, Self-mutilation, Polyphag... ORPHA:251028
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Tangier Disease
Hypocholesterolemia, Impaired temperature sensation, Hypertriglyceridemia ORPHA:31150
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Hyperglycemia, ... ORPHA:79474
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Milroy Disease
Neoplasm of the skin, Angiosarcoma ORPHA:79452
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Cryptorch... ORPHA:404448
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Polyphagia, Cam... OMIM:277590
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Crypt... OMIM:615873
Monosomy 22
Schwannoma, Sarcoma, Gonadal neoplasm, Meningioma ORPHA:96123
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Meningioma, Neoplasm of the thyroid gland, En... ORPHA:201
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma OMIM:619750
Multiple Endocrine Neoplasia Type 4
Thymoma, Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell ade... ORPHA:276152
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Small scrotum, Self-injurious behavior, Fixated interests, Umbilical hernia, ... OMIM:620330
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Abnormal female external gen... ORPHA:1606
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Meige Disease
Angiosarcoma ORPHA:90186
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Parathyroid adenom... ORPHA:99880
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Oppositional defiant disorder, Crypt... OMIM:607872
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblast... ORPHA:143
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Aicardi Syndrome
Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Severe failure to th... ORPHA:740
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal neurofibroma... ORPHA:363700
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Overfolded helix, Posteriorly rotated ears, Hearing impairment, Microtia OMIM:620475
Dystonia-Deafness Syndrome 1
Sensorineural hearing impairment OMIM:607371
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment ORPHA:79107
Baraitser-Winter Syndrome 1
Low-set ears, Overfolded helix, Sensorineural hearing impairment OMIM:243310
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Lipoatrophy ORPHA:64755
Becker Nevus Syndrome
Unilateral breast hypoplasia OMIM:604919
Baraitser-Winter Cerebrofrontofacial Syndrome
Failure to thrive ORPHA:2995

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 Actb

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 Actb.

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

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
Actbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Actbtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Actbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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