Gene: Actb MGI:87904

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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:
A-X actin-like protein,  Actx,  E430023M04Rik,  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
Dystonia, Juvenile-Onset
Sensorineural hearing impairment OMIM:607371
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment ORPHA:79107
Baraitser-Winter Syndrome 1
Low-set ears, Sensorineural hearing impairment, Overfolded helix OMIM:243310
Becker Nevus Syndrome
Hypoplastic labia minora, Lipoatrophy, Abnormality of the scrotum ORPHA:64755
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
Neoplasm, Sarcoma OMIM:267730
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
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
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
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ... ORPHA:71529
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Lipodys... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Increas... ORPHA:435660
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Lipodystrophy, Insulin-resistant diabetes mellitus, Polyc... ORPHA:435651
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decreased t... ORPHA:179494
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Primary amenorrhea, Abnormal eating behavior, Decreased testi... OMIM:614962
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Lipoatrophy, Polycystic ovaries, Hypertriglyceride... ORPHA:280356
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Chylomicron Retention Disease
Impaired vibratory sensation, Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LD... OMIM:246700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Hyperbilirubinemi... OMIM:609734
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Insulin resistance, Oligospermia, Hypertriglyceri... OMIM:615703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Temple Syndrome
Cryptorchidism, Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurr... ORPHA:254516
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pares... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Maffucci Syndrome
Neoplasm of the parathyroid gland, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Multiple en... ORPHA:163634
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Lipodystrophy, Hyperuricemia, Insulin-resist... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, D... ORPHA:96180
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Failure to thriv... OMIM:606407
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Primary amenorrhea, Hypert... OMIM:612526
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Amenorrhea, Oligomenorrhea, Adipose t... ORPHA:528
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Hypophosphatemic rickets, Hypoglycemia, Reduced C-peptide level, Hypoinsulinemia... ORPHA:2126
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98754
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Bilateral cryptorchidism, Failure to thri... OMIM:618156
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177904
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177901
Potocki-Lupski Syndrome
Hypothyroidism, Oral-pharyngeal dysphagia, Hypocholesterolemia, Small for gestational age, Failur... OMIM:610883
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia, Obesity ORPHA:177910
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... OMIM:616033
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Chorea, Abnormal libido, Weight loss, Or... ORPHA:399
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:398073
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Lipoatrophy, Polycystic ovaries, Diabetes mellitus ORPHA:79084
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Labial pseudohypertrophy, Increased intraabdominal fat, Hyperinsulinemia, A... OMIM:151660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Decreased fertility in females, Polyphagia, Hyperinsulinemia, Reduced int... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Decreased fertility in females, Polyphagia, Hyperinsulinemia, Reduced int... OMIM:608594
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Bardet-Biedl Syndrome 9
Polyphagia, Irregular menstruation, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Ataxia,... ORPHA:363400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Se... ORPHA:3085
Neurofibromatosis, Type Iv, Of Riccardi
Lisch nodules, Atypical neurofibromatosis OMIM:162270
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Chylomicron Retention Disease
Impaired proprioception, Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Distal sensory impairment, Hypocholesterolemia OMIM:256840
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Schaaf-Yang Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contractur... OMIM:615547
Liposarcoma
Sarcoma ORPHA:69078
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Hypoplasia of the uterus, Prim... OMIM:615363
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Neoplasm of the liver ORPHA:69077
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutaneous fat tissue distribution, Fl... OMIM:212065
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia, Delayed pu... OMIM:176270
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Sarcoma, Neoplasm of the lung, Testicul... ORPHA:83469
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Hyperka... OMIM:614736
Abetalipoproteinemia
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Hypotriglyceridemia, Impaired p... ORPHA:14
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity ORPHA:411515
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Neonatal death, Micropenis, Hypocholesterolemia OMIM:618810
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Secondary Short Bowel Syndrome
Low plasma citrulline, Polyphagia, Central hypothyroidism, Steatorrhea, Abnormal blood ion concen... ORPHA:95427
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adi... OMIM:246200
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Azoospermia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Impaired cortisol response to insulin stimulation test, De... ORPHA:361
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Polyphagia, Paresthesia, Oligomenorrhea, Pseudohypoparathyroidis... ORPHA:79444
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Polyphagia, Pain insensitivity,... ORPHA:251004
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Cutaneous melanoma, Meningioma, Ga... ORPHA:902
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Mic... ORPHA:3464
Craniopharyngioma
Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hy... ORPHA:54595
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Choreoathetosis, Polyphagia, Paresthesia, Oligomenorrhea, Pseudo... ORPHA:79443
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Femoral hernia, Inguinal hernia, Hypoplasia of penis ORPHA:2849
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Pick Disease Of Brain
Polyphagia OMIM:172700
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Polyphagia, Ataxia, Hypoplasia of penis ORPHA:228402
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Hyperglycemia, Premature adrenarche, Polydipsia, Central hypothyroidism, Hyponatremia... ORPHA:293987
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Frontotemporal Dementia
Polyphagia OMIM:600274
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Dysphagia, Flexion contracture, Lipodystrophy, Hypertriglyc... OMIM:613327
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Infertility, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Long penis, Insulin resistance, Enlarged ovaries, Hypothyroidism, Increased... ORPHA:769
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Irregular ... OMIM:203800
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Atypical Werner Syndrome
Ovarian neoplasm, Decreased fertility, Delayed puberty, Secondary amenorrhea, Type II diabetes me... ORPHA:79474
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Kaufman Oculocerebrofacial Syndrome
Hypoplastic labia majora, Clitoral hypertrophy, Failure to thrive, Hypocholesterolemia OMIM:244450
Angelman Syndrome
Polyphagia, Dysphagia, Delayed menarche, Ataxia, Precocious puberty in females, Obesity ORPHA:72
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Polyphagia, Obesity OMIM:616831
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Neoplasm of the breast, Sarcoma, Testicular neoplasm ORPHA:457059
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Insulin resistance, Recurrent infantile hypog... ORPHA:508
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Elevated 7-dehydrocholest... OMIM:270400
Trisomy 18P
Bilateral cryptorchidism, Polyphagia ORPHA:1715
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Rett Syndrome
Increased serum pyruvate, Increased serum leptin, Hyperammonemia, Failure to thrive ORPHA:778
Tangier Disease
Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia ORPHA:31150
Mastocytosis
Acute leukemia, Chronic leukemia, Sarcoma ORPHA:98292
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma... OMIM:610755
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Mental Retardation, Autosomal Dominant 1
Polyphagia, Ataxia OMIM:156200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Neurofibromatosis Type 1
Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Plexiform neurofib... ORPHA:636
7Q11.23 Microduplication Syndrome
Cryptorchidism, Polyphagia, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the u... ORPHA:96121
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Polyphagia, External genital hypoplasia, Decreased testicular size, Micropenis ORPHA:251028
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Cowden Syndrome
Neoplasm of the central nervous system, Fibroma, Endometrial carcinoma, Neoplasm of the thyroid g... ORPHA:201
Monosomy 22
Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma ORPHA:96123
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, D... ORPHA:64
Adnp Syndrome
Cryptorchidism, Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia, Truncal obesity, Inguina... ORPHA:404448
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
1P36 Deletion Syndrome
Camptodactyly of finger, Cryptorchidism, Polyphagia, Dysphagia, Hypothyroidism, Abnormality of fe... ORPHA:1606
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic ... ORPHA:273
Meige Disease
Angiosarcoma ORPHA:90186
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Hypoplastic male external genitalia, Pubertal develop... ORPHA:740
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma, Esophageal neoplasm, Uterine neoplasm,... ORPHA:1018
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Renal hamartoma, Nephroblastoma, Thyroid carcinoma, Testicular neopla... ORPHA:99880
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Nephroblastoma, Renal hamartoma, Thyroid carci... ORPHA:143
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Cardiac rhabdomyoma, Pulmonary lymphang... ORPHA:805
Early-Onset Schizophrenia
Decreased female libido, Decreased male libido, Polyphagia ORPHA:96369
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Insulinoma, Pituitary thyrotropic cell adenoma, Carcinoid tumor, Adre... ORPHA:652
Mosaic Monosomy X
Premature ovarian insufficiency, Abnormality of the ovary, Increased circulating gonadotropin lev... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Abnormality of the ovary, Increased circulating gonadotropin lev... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Abnormality of the ovary, Increased circulating gonadotropin lev... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Abnormality of the ovary, Increased circulating gonadotropin lev... ORPHA:99413
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Lipoma, Metastatic angiosarcoma, Hepatoblastoma OMIM:304050
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Cryptorchidism, Polyphagia, Abnormal external genitalia, Dysphagia, Hypo... OMIM:607872
Dystonia, Juvenile-Onset
Sensorineural hearing impairment OMIM:607371
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Aplasia of the ovary, Insuli... ORPHA:79318
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hemangioma, Lisch nodules, Optic nerve glioma, Ossifying fibroma, Neurofibrosarcoma, Schwannoma, ... ORPHA:363700
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment ORPHA:79107
Baraitser-Winter Syndrome 1
Low-set ears, Sensorineural hearing impairment, Overfolded helix OMIM:243310
Becker Nevus Syndrome
Hypoplastic labia minora, Lipoatrophy, Abnormality of the scrotum ORPHA:64755
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.

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MGI Allele Allele Type Produced
Actbtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Actbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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