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
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
Lipoatrophy, Abnormality of the scrotum, Hypoplastic labia minora 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
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis 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
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:166000
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Desmoid Disease, Hereditary
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Hypertriglyceridemia... ORPHA:71529
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Polycysti... ORPHA:79085
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:614569
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Insulin resistance, Increased adipos... ORPHA:435660
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... ORPHA:324575
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decrease... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... ORPHA:435651
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Insulin resistance, Polyphagia, H... OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... ORPHA:179494
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Polyphagia, Primary amenorrhea, ... OMIM:614962
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... ORPHA:280356
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Imp... OMIM:246700
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... ORPHA:181393
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Type II diabetes mellitus, Infertility, Insulin resistance, Azoospermia, Ol... OMIM:615703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Secondary amenorrhea, Reduced subcutan... ORPHA:280365
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes me... OMIM:604367
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity, Glucose intolerance ORPHA:369873
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... OMIM:619855
Insulinoma
Hyperinsulinemia, Paresthesia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells... ORPHA:97279
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Delayed puberty, Decreased HDL choles... OMIM:616834
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Ollier Disease
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... ORPHA:296
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... OMIM:606762
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Secondary amenorrhea, Inappr... OMIM:301033
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Cowden Syndrome 7
Papilloma, Breast carcinoma, Trichilemmoma, Ductal carcinoma in situ, Hemangioma, Intestinal poly... OMIM:616858
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... OMIM:609734
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, F... ORPHA:35878
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Type I diabet... ORPHA:96180
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Hyperinsulinemic hypoglycemia, A... ORPHA:2298
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Potocki-Lupski Syndrome
Hypothyroidism, Hyperactivity, Small for gestational age, Failure to thrive, Hypocholesterolemia,... OMIM:610883
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age, Hypogonadism OMIM:617119
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hypercholesterolemia, Hyperinsulinemia, Increased C-peptide level,... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Dia... OMIM:612526
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Weight loss, Vaginal neoplasm, Hypoglycemia, Hypophosphatemic rickets, Recurrent... ORPHA:2126
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... ORPHA:276608
Huntington Disease
Chorea, Weight loss, Abnormal circulating cholesterol concentration, Choking episodes, Alcoholism... ORPHA:399
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Long peni... OMIM:262190
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Ataxia, Steatorrhea, Failure to thrive, Hypocho... OMIM:266510
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... OMIM:606407
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma ORPHA:626
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Bil... OMIM:618156
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Hyperactivity, Reduced intraabdominal adipose tissue, Reduced subc... ORPHA:363400
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia, External genital hypoplasia ORPHA:177910
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hyponatremia, Increased circulating ACTH level, Decreased circulating cortiso... OMIM:614736
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitu... OMIM:151660
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... ORPHA:2457
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-... OMIM:608594
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Diabetes mellitus, Polycystic ovaries, Lipoatrophy ORPHA:79084
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... OMIM:615558
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma, Unilateral vestibular schwannoma OMIM:603641
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Reduced intraabdominal adi... OMIM:269700
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Primary... OMIM:616033
Bardet-Biedl Syndrome 9
Irregular menstruation, Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia OMIM:615986
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Secondary amenor... ORPHA:3085
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Impaired proprioception, Hypocholesterolemia, Hypertriglyceridemia ORPHA:71
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Primary a... ORPHA:398069
Schaaf-Yang Syndrome
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Micropenis, Cryptorchi... OMIM:615547
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... ORPHA:791
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Liposarcoma
Sarcoma ORPHA:69078
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia, Ataxia ORPHA:411515
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Neonatal hypog... ORPHA:263455
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Test... ORPHA:83469
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Renal Glucosuria
Glycosuria, Polyphagia, Polydipsia OMIM:233100
Prader-Willi Syndrome
Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... OMIM:176270
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Premature ova... OMIM:212065
Abetalipoproteinemia
Gait ataxia, Hypothyroidism, Impaired distal proprioception, Decreased LDL cholesterol concentrat... ORPHA:14
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micropenis, Neonatal death, Hydrocele testis OMIM:618810
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Alg12-Cdg
Camptodactyly, Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Hypo... ORPHA:79324
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Steatorrhea, Failure to th... ORPHA:95427
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Polycys... OMIM:615363
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... OMIM:608612
Werner Syndrome
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Sarcoma, Squamous cell carcinoma, Gastroin... ORPHA:902
Gangliocytoma
Adrenocorticotropic hormone excess, Impotence, Paresthesia, Decreased female libido, Pituitary nu... ORPHA:251937
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Long penis, Postprandial hyperglycemia... OMIM:246200
Retinoblastoma
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Polyphagia, Cryptorchidism ORPHA:228402
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... ORPHA:44890
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... ORPHA:247798
Pick Disease Of Brain
Disinhibition, Polyphagia OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Yellow Nail Syndrome
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Neoplasm of the lung ORPHA:662
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest... OMIM:615812
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... OMIM:300200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Imp... OMIM:248370
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s... ORPHA:79444
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Delayed puberty, Pain insensitivity, Polyphagia, Hypercalcemia, Ob... ORPHA:251004
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Frontotemporal Dementia
Disinhibition, Polyphagia OMIM:600274
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Increased circ... OMIM:300942
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased circulating cortisol level, Abnormal subcutaneous fat tissue di... ORPHA:189439
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Polycystic ovarie... ORPHA:79086
Perlman Syndrome
Hyperinsulinemia, Hypoplasia of penis, Inguinal hernia, Cryptorchidism, Femoral hernia ORPHA:2849
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Desmoid Tumor
Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis ORPHA:873
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s... ORPHA:79443
Carney Complex
Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellular carcinoma, Hirsut... ORPHA:1359
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Atypical Werner Syndrome
Decreased body weight, Abnormal testis morphology, Neoplasm of the thyroid gland, Chondrocalcinos... ORPHA:79474
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Alstrom Syndrome
Irregular menstruation, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response ... OMIM:203800
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin def... ORPHA:293987
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Diffuse leiomyomatosis ORPHA:314478
Rett Syndrome
Increased serum leptin, Agitation, Failure to thrive, Hyperammonemia, Increased serum pyruvate ORPHA:778
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Tuberous Sclerosis 2
Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceum, Retinal hamar... OMIM:613254
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated circulating creatine kinase c... OMIM:613327
Angelman Syndrome
Precocious puberty in females, Hyperactivity, Ataxia, Polyphagia, Dysphagia, Obesity, Delayed men... ORPHA:72
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Trisomy 18P
Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive, Hypoplastic labia majora, Clitoral hypertrophy OMIM:244450
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Obesity, Polyphagia OMIM:616831
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Sarcoma, Neoplasm of the thyroid gland, Neoplasm of the breast ORPHA:457059
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Steatorrhea, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged ova... ORPHA:508
Dubowitz Syndrome
Hyperactivity, Inguinal hernia, Hypospadias, Cryptorchidism, Hypocholesterolemia OMIM:223370
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Dysdiadochokinesis, Impaired glucose tolerance, Small for gest... OMIM:606721
Smith-Lemli-Opitz Syndrome
Hyperactivity, Precocious puberty, Ambiguous genitalia, Bifid scrotum, Bicornuate uterus, Failure... OMIM:270400
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Impaired temperature sensation ORPHA:31150
Mastocytosis
Sarcoma, Acute leukemia, Chronic leukemia ORPHA:98292
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Wagro Syndrome
Decreased testicular size, Agitation, Hypoplastic female external genitalia, Polyphagia, Obesity OMIM:612469
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Retrograde ejaculation, Insulin resistance, Increased blood urea nitrogen, Hypo... ORPHA:230
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteosarcoma, Histiocytoma, Fibrosarcoma OMIM:112250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Decreased testicular size, Polyphagia, Cryptorchidism, Restlessness,... ORPHA:251028
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Multiple Endocrine Neoplasia, Type Iv
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino... OMIM:610755
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... ORPHA:636
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Micropenis, Ataxia OMIM:156200
7Q11.23 Microduplication Syndrome
Hyperactivity, Aplasia/hypoplasia of the uterus, Inguinal hernia, Congenital diaphragmatic hernia... ORPHA:96121
Chromosome 22Q13 Duplication Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia OMIM:615538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Weaver Syndrome
Joint contracture of the hand, Camptodactyly, Hydrocele testis, Inguinal hernia, Polyphagia, Cryp... OMIM:277590
Cowden Syndrome
Fibroma, Papilloma, Breast carcinoma, Colorectal polyposis, Neoplasm of the central nervous syste... ORPHA:201
Monosomy 22
Meningioma, Sarcoma, Gonadal neoplasm, Schwannoma ORPHA:96123
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Agitation OMIM:607485
Keppen-Lubinsky Syndrome
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... OMIM:614098
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma OMIM:619750
Early-Onset Schizophrenia
Decreased female libido, Decreased male libido, Addictive behavior, Attention deficit hyperactivi... ORPHA:96369
Adnp Syndrome
Inguinal hernia, Polyphagia, Attention deficit hyperactivity disorder, Cryptorchidism, Truncal ob... ORPHA:404448
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Pineal cyst, Failure to thr... OMIM:615873
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Failure to thrive, Flexion contracture, Lipoatrophy OMIM:614008
Alström Syndrome
Somatic sensory dysfunction, Dorsocervical fat pad, Oligospermia, Decreased circulating T4 concen... ORPHA:64
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Abnormality of female external genitalia, Hypogonadism, ... ORPHA:1606
Steinert Myotonic Dystrophy
Decreased fertility, Hypercholesterolemia, Hyperinsulinemia, Decreased response to growth hormone... ORPHA:273
Meige Disease
Angiosarcoma ORPHA:90186
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Esophageal neoplasm, Vaginal ne... ORPHA:1018
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Thyroid carcinoma, Renal... ORPHA:99880
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Pubertal developmental failure in females, Weight loss, Insulin re... ORPHA:740
Parathyroid Carcinoma
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal hamartoma, Lipoma, T... ORPHA:143
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99226
Tuberous Sclerosis Complex
Parathyroid adenoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Retin... ORPHA:805
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Hypothyroidism, Abnormal external genitalia, Camptodactyly, Hypospadias,... OMIM:607872
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Ependymoma, Neoplasm of... ORPHA:652
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Lipoma, Metastatic angiosarcoma OMIM:304050
Pmm2-Cdg
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Spinal neurofibromas, Ossifying fibroma, Schwannoma, Hemangioma, Subcutaneous neurofibromas, Neur... ORPHA:363700
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
Lipoatrophy, Abnormality of the scrotum, Hypoplastic labia minora 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
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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