Gene Summary

Name:
doublecortin
Synonyms:
lissencephaly, X-linked (doublecortin),  Dbct

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating chloride level Dcxtm1a(EUCOMM)Wtsi HEM Early adult 6.81×10-08
increased circulating sodium level Dcxtm1a(EUCOMM)Wtsi HEM Early adult 9.60×10-05
increased circulating insulin level Dcxtm1a(EUCOMM)Wtsi HEM Early adult 3.86×10-08

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

Legacy Phenotype Associated Images

View all 84 images

View all 8 images

Human diseases caused by Dcx 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 Dcx by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum OMIM:300067
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment ORPHA:2148

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556037
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:264350
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556030
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, An... OMIM:615926
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... ORPHA:276556
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia OMIM:620423
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Increased circulating renin level, Hyponatremia, Hyperkalemia, ... ORPHA:171876
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus OMIM:613845
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... ORPHA:79237
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Abnormal ci... ORPHA:2298
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Familial Hypoaldosteronism
Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Incre... ORPHA:427
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... OMIM:601678
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Hartsfield Syndrome
Gonadotropin deficiency, Diabetes insipidus, Hypernatremia OMIM:615465
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... ORPHA:528
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Snakebite Envenomation
Hyponatremia, Hypopituitarism ORPHA:449285
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Acute Adrenal Insufficiency
Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adrenal insuffici... ORPHA:95409
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglycemia, Decreased response t... ORPHA:293978
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal calcification, I... ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:289548
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... ORPHA:168558
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Mirage Syndrome
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia, Hypergonadot... OMIM:617053
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Glycosuria ORPHA:97362
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:241200
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Alg8-Cdg
Hyponatremia ORPHA:79325
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Whipple Disease
Hyponatremia, Hypothyroidism, Insulin resistance ORPHA:3452
Porphyria Variegata
Hyponatremia, Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concen... ORPHA:79473
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Infant Botulism
Hyponatremia ORPHA:178478
Legionnaires Disease
Hyponatremia ORPHA:549
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... ORPHA:79324
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertr... OMIM:613327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Shigellosis
Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:810
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hyp... OMIM:219800
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Prader-Willi Syndrome
Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone... OMIM:176270
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency, Hyponatremia, Hypercholesterolemia, Hypertr... ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Familial Dysautonomia
Hyponatremia ORPHA:1764
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Hyponatremia, Diabetes insipidus, Diabetes mellitus, Anterior h... ORPHA:2162
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin-resist... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Insul... OMIM:269700
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99228
Monosomy X
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... ORPHA:99226
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:79318
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum OMIM:300067
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment ORPHA:2148

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 Dcx

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 Dcx.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dcxtm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dcxtm1a(EUCOMM)Wtsi Dcxtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dcxtm1a(EUCOMM)Wtsi