Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arrestin domain containing 3
Synonyms:
N/A

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 Arrdc3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arrdc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Scalp Defects And Postaxial Polydactyly
Aplasia cutis congenita of scalp OMIM:181250
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin ORPHA:1658
Dermoodontodysplasia
Thin skin OMIM:125640
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Atypical scarring of skin, Thin skin OMIM:225310
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Schizophrenia 15
Hyperactivity OMIM:613950
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin ORPHA:743
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin ORPHA:2500
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Pseudoprogeria Syndrome
Decreased body weight, Failure to thrive, Thin skin ORPHA:2985
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Familial Cervical Artery Dissection
Striae distensae, Thin skin ORPHA:36382
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Failure to thrive, Skin dimple ORPHA:261304
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Milia, Erythematous plaque, Thin skin ORPHA:158673
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Hyperactivity ORPHA:85288
Fetal Encasement Syndrome
Thin skin OMIM:613630
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Thin skin ORPHA:157965
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Dermoodontodysplasia
Melanocytic nevus, Thin skin ORPHA:1660
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous nodule, Papule ORPHA:89843
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Atrophic scars, Skin erosion, Aplasia cutis congenita ORPHA:79411
Silver-Russell Syndrome 2
Thin skin OMIM:618905
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin ORPHA:1810
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal peritoneum mor... ORPHA:2126
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia cutis congenita ORPHA:79499
Atrophoderma Vermiculata
Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ... ORPHA:79100
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin OMIM:617364
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Cigarette-paper scars, Thin skin OMIM:612350
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Thin skin ORPHA:75496
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae, Truncal obesity, Thin skin OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Truncal obesity, Thin skin OMIM:610475
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Milia, Failure to thrive, Congenital localized absence of skin OMIM:226700
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Atrophic scars, Aplasia cutis congenita, Skin dimple ORPHA:79133
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Aplasia Cutis Congenita
Aplasia cutis congenita, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital lo... ORPHA:1114
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dermal atrophy, Erythematous papule ORPHA:3406
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
19Q13.11 Microdeletion Syndrome
Cachexia, Aplasia cutis congenita, Failure to thrive, Thin skin ORPHA:217346
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congenita ORPHA:79402
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Thin skin, Xanthomatosis ORPHA:2348
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Thin skin OMIM:219150
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Thin skin OMIM:166210
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita, Neonatal death OMIM:612138
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Thin skin, Xanthomatosis ORPHA:79083
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:608594
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer, Thin skin ORPHA:742
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy OMIM:617294
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Atypical scarring of skin, Subcutaneous nodule ORPHA:1366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Truncal obesity, Thin skin OMIM:610489
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Marshall-Smith Syndrome
Failure to thrive, Thin skin ORPHA:561
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Obesity, Abdominal obesity, Thin skin OMIM:219090
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... OMIM:269700
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin OMIM:607823
Short Syndrome
Small for gestational age, Thin skin OMIM:269880
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the skin, Sacral dimple ORPHA:1643
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hypercholest... OMIM:306000
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Premature Aging Syndrome, Penttinen Type
Keloids, Failure to thrive, Dermal atrophy, Skin nodule, Thin skin OMIM:601812
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita of scalp, Aplasia cutis congenita on trunk or limbs, Neonatal death OMIM:619817
Ehlers-Danlos Syndrome, Periodontal Type, 1
Atrophic scars, Thin skin OMIM:130080
Focal Dermal Hypoplasia
Dermal atrophy, Aplasia/Hypoplasia of the skin, Macule, Skin nodule, Subcutaneous nodule, Thin skin ORPHA:2092
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:230851
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Thin skin OMIM:617602
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin OMIM:617804
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618839
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Adult Syndrome
Melanocytic nevus, Skin ulcer, Thin skin ORPHA:978
Mandibuloacral Dysplasia
Thin skin ORPHA:2457
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Xeroderma Pigmentosum
Hypopigmented skin patches, Failure to thrive, Dermal atrophy, Melanocytic nevus, Macule, Hyperme... ORPHA:910
Adams-Oliver Syndrome 4
Aplasia cutis congenita OMIM:615297
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Recon Progeroid Syndrome
Thin skin OMIM:620370
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle ORPHA:257
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Thin skin ORPHA:1812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Failure to thrive, Preauricular pit, Cafe-au-lait spot, Thin skin OMIM:617506
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Thin skin OMIM:615895
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Thin skin ORPHA:238468
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90153
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin OMIM:614438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Lichen Planopilaris
Dermal atrophy, Papule, Skin ulcer, Hypopigmented skin patches ORPHA:525
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Failure to thrive, Thin skin OMIM:244450
Glass Syndrome
Thin skin OMIM:612313
Dermatosparaxis Ehlers-Danlos Syndrome
Thin skin ORPHA:1901
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... OMIM:609152
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Skin detac... ORPHA:251393
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
De Barsy Syndrome
Failure to thrive, Thin skin ORPHA:2962
Hereditary Acrokeratotic Poikiloderma
Papule, Skin ulcer, Hypopigmented skin patches, Thin skin ORPHA:2907
Adult Syndrome
Dermal atrophy, Thin skin OMIM:103285
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Stuve-Wiedemann Syndrome 1
Milia, Thin skin OMIM:601559
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Death in infancy, Hypothyroidism, D... ORPHA:95496
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Rapp-Hodgkin Syndrome
Thin skin OMIM:129400
Arterial Tortuosity Syndrome
Thin skin OMIM:208050
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Failure to thrive ORPHA:100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:536467
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin ORPHA:2719
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... OMIM:617049
Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Numerous nevi, Thin skin ORPHA:536471
Meier-Gorlin Syndrome 1
Small for gestational age, Failure to thrive, Thin skin OMIM:224690
Arterial Tortuosity Syndrome
Thin skin ORPHA:3342
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Atypical Werner Syndrome
Chondrocalcinosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thin skin OMIM:612199
Helsmoortel-Van Der Aa Syndrome
Obesity, Failure to thrive, Truncal obesity, Thin skin OMIM:615873
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Weight loss ORPHA:33577
Adams-Oliver Syndrome 3
Aplasia cutis congenita OMIM:614814
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Thin skin OMIM:151050
Cushing Disease
Skin ulcer, Striae distensae, Increased body weight, Truncal obesity, Abdominal obesity, Thin skin ORPHA:96253
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplastic-absent sebaceous glands, Thin skin OMIM:305100
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Thin skin OMIM:266920
Linear Skin Defects With Multiple Congenital Anomalies 2
Aplasia cutis congenita, Asymmetric, linear skin defects OMIM:300887
Stiff Skin Syndrome
Aplasia/Hypoplasia of the skin, Subcutaneous nodule ORPHA:2833
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Molluscoid pseudotumors, Thin skin OMIM:225400
Flynn-Aird Syndrome
Dermal atrophy, Cachexia, Skin ulcer ORPHA:2047
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased circulati... ORPHA:226307
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Weight loss ORPHA:1979
Tooth Agenesis, Selective, 4
Thin skin OMIM:150400
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin ORPHA:536545
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Aplasia cutis congenita, Neonatal death OMIM:609638
Xeroderma Pigmentosum Variant
Dermal atrophy ORPHA:90342
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Restrictive Dermopathy 1
Neonatal death, Skin erosion, Stillbirth, Thin skin OMIM:275210
Loeys-Dietz Syndrome
Striae distensae, Atypical scarring of skin, Thin skin ORPHA:60030
Ablepharon Macrostomia Syndrome
Thin skin ORPHA:920
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the skin, Skin tags, Preauricular skin tag, Hypopigmented skin patches ORPHA:1647
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Scarring alopecia of scalp... ORPHA:158684
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Failure to thrive, Thin skin OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Failure to thrive, Thin skin OMIM:264090
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1553
Rett Syndrome
Increased serum leptin, Failure to thrive, Cholecystitis ORPHA:778
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Thin skin OMIM:129900
Cushing Syndrome Due To Ectopic Acth Secretion
Skin ulcer, Striae distensae, Increased body weight, Weight loss, Truncal obesity, Abdominal obes... ORPHA:99889
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Warburg-Cinotti Syndrome
Thin skin OMIM:618175
Wiedemann-Rautenstrauch Syndrome
Slender build, Failure to thrive, Thin skin ORPHA:3455
Hypermobile Ehlers-Danlos Syndrome
Striae distensae, Subcutaneous nodule, Atypical scarring of skin, Thin skin ORPHA:285
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Adams-Oliver Syndrome
Aplasia/Hypoplasia of the skin, Aplasia cutis congenita, Failure to thrive ORPHA:974
Lyme Disease
Skin nodule, Dermal atrophy ORPHA:91546
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus OMIM:278700
Ablepharon-Macrostomia Syndrome
Thin skin OMIM:200110
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Skin erosion, Nevus, Failure to thrive, Milia, Decreased body weight, ... ORPHA:89842
Werner Syndrome
Aplasia/Hypoplasia of the skin, Skin ulcer, Slender build ORPHA:902
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the skin, Webbed neck, Nevus, Failure to thrive ORPHA:2990
Desmosterolosis
Aplasia/Hypoplasia of the skin, Dermal atrophy, Failure to thrive ORPHA:35107
Subacute Cutaneous Lupus Erythematosus
Dermal atrophy, Annular cutaneous lesion ORPHA:163525
Dysosteosclerosis
Aplasia/Hypoplasia of the skin ORPHA:1782
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Failure to thrive ORPHA:1231
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Melanocytic nevus, Macule, Subcutaneous nodule, Thin skin ORPHA:286
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal atrophy ORPHA:69735
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hoyeraal-Hreidarsson Syndrome
Dermal atrophy, Failure to thrive ORPHA:3322
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita OMIM:616028
Dyskeratosis Congenita
Skin ulcer, Hypopigmented skin patches, Skin vesicle, Aplasia/Hypoplasia of the skin, Macule, Hyp... ORPHA:1775
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Atrophic scars, Milia, Aplasia cutis congenita, Aplasia cutis congenita on tru... ORPHA:79396
Acute Radiation Syndrome
Dermal atrophy, Skin ulcer ORPHA:454831
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic pilosebaceous units OMIM:601345
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Skin erosion, Multiple cafe-au-lait spots, Blue nevus ORPHA:1556
Malignant Atrophic Papulosis
Dermal atrophy, Papule, Weight loss ORPHA:679
Toriello-Lacassie-Droste Syndrome
Aplasia/Hypoplasia of the skin, Failure to thrive ORPHA:3339
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive OMIM:300952
Xeroderma Pigmentosum, Variant Type
Dermal atrophy OMIM:278750
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dermal atrophy, Cachexia ORPHA:220295
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy OMIM:278720
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Hypopigmented skin patches, Dermal atrophy, Aplasia/Hypoplasia of the skin, Sa... ORPHA:2556
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Small for gestational age ORPHA:2909
Kindler Syndrome
Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy OMIM:173650
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Milia, Atypical scarring of skin ORPHA:2908
Eec Syndrome
Aplasia/Hypoplasia of the skin, Nevus ORPHA:1896
Dermatomyositis
Skin ulcer, Aplasia/Hypoplasia of the skin, Weight loss, Gottron's papules, Papule ORPHA:221
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the skin ORPHA:2658

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 Arrdc3

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 Arrdc3.

No publications found that use IMPC mice or data for Arrdc3.

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
Arrdc3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Arrdc3tm96590(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arrdc3tm96590(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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