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Gene: Dlx3 MGI:94903

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Gene Summary

Name:
distal-less homeobox 3
Synonyms:
Dlx-3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 calcium level Dlx3em1(IMPC)Mbp HET   Early adult 4.51×10-05
abnormal heart morphology Dlx3em1(IMPC)Mbp HET Early adult 0.00
edema Dlx3em1(IMPC)Mbp HET E15.5 0.00
small heart Dlx3em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Dlx3em1(IMPC)Mbp HET E15.5 0.00
increased freezing behavior Dlx3em1(IMPC)Mbp HET Early adult 2.50×10-05
increased circulating alkaline phosphatase level Dlx3em1(IMPC)Mbp HET Early adult 9.19×10-07
preweaning lethality, complete penetrance Dlx3em1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Dlx3em1(IMPC)Mbp HET E15.5 0.00

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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 Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Dlx3 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 Dlx3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichodentoosseous Syndrome
OMIM:190320
Tricho-Dento-Osseous Syndrome
ORPHA:3352
Amelogenesis Imperfecta, Type Iv
OMIM:104510

The table below shows human diseases predicted to be associated to Dlx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Lipedema
Edema OMIM:614103
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy OMIM:620152
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema, Pulmonary arterial hypertension OMIM:152900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia, Infantile
Anorexia, Irritability, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:476126
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Hypercalcemia ORPHA:96168
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia ORPHA:251004
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:95409
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Late-Onset Isolated Acth Deficiency
Anorexia, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Increased circulating ... ORPHA:26793
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Restrictive cardiomyopathy, Abnormal heart morphology, Hypercalcemia, Atria... ORPHA:369837
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ven... ORPHA:3426
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Addison Disease
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:85138
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Anorexia, Hypomagnesemia, Hypokalemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... OMIM:618183
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:99880
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia ORPHA:143
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Hypophosphatemia ORPHA:289157
Autosomal Dominant Hypocalcemia
Hypocalcemia, Depression, Emotional lability, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Vipoma
Anorexia, Hypercalcemia, Hypokalemia ORPHA:97282
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Cardiomegaly, Depressi... ORPHA:904
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ppoma
Anorexia, Hypercalcemia ORPHA:97278
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Glucagonoma
Anorexia, Hypercalcemia, Depression ORPHA:97280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hypocalcemic tetany, Dilated cardiomyopathy ORPHA:73224
Velocardiofacial Syndrome
Hypocalcemia, Emotional lability, Tetralogy of Fallot, Ventricular septal defect, Aggressive beha... OMIM:192430
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79444
Somatostatinoma
Anorexia, Hypercalcemia ORPHA:97283
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Ventricular septal defect, Hypoproteinemia OMIM:235255
Grfoma
Anorexia, Hypercalcemia ORPHA:97261
Aneurysm Of Sinus Of Valsalva
Edema, Congestive heart failure, Aortic regurgitation, Heart murmur ORPHA:1054
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Cardiomyopathy, Left ventricular hypertrophy ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, E... ORPHA:36234
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Ventricular septal defect, Hypoproteinemia ORPHA:1655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79443
Multiple Endocrine Neoplasia Type 1
Anorexia, Hypercalcemia, Depression ORPHA:652
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia OMIM:617913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Obsessive-compulsive trait, Coronary artery stenosis, Pulmo... OMIM:194050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Depression OMIM:212750
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Ethylene Glycol Poisoning
Hypocalcemia, Euphoria, Hyperkalemia, Addictive alcohol use ORPHA:31826
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Irritability OMIM:259720
Pearson Syndrome
Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Abnormal heart morphology, Hypomagnes... ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Emotional lability, Polyphagia, Fixated interests, Motor... OMIM:620330
Liver Disease, Severe Congenital
Left atrial enlargement, Irritability, Increased circulating ferritin concentration, Hypocalcemia... OMIM:619991
Sotos Syndrome
Abnormal heart morphology, Hypercalcemia, Attention deficit hyperactivity disorder, Atrial septal... ORPHA:821
Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect OMIM:300712
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Cartilage-Hair Hypoplasia
Hypocalcemia, Cardiomyopathy, Abnormal cardiac septum morphology ORPHA:175
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect ORPHA:163979
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Hypokalemia, Hypocalcemia, Pericardial effusion, Hypomagnesemia, Sal... ORPHA:358
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Hypokalemia OMIM:219090
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal aortic valve morphology, Hypocalcemia, Depression, Truncus arteriosus... ORPHA:567
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Sarcoidosis
Hypercalcemia ORPHA:797
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Abnormal pulmonary valve morphology ORPHA:667
Hennekam Syndrome
Hypocalcemia, Pericardial effusion ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Transposition of the great arteries, Muscular ventricular septal defect, Hypocalcemia, Bruxism, L... OMIM:619503
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hypocalcemia OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Charge Syndrome
Hypocalcemia, Pulmonic stenosis, Secundum atrial septal defect, Tetralogy of Fallot, Dysphagia, D... OMIM:214800
Digeorge Syndrome
Hypocalcemia, Truncus arteriosus, Tetralogy of Fallot, Attention deficit hyperactivity disorder, ... OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Patent foramen ovale, Compulsi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Patent foramen ovale, Compulsi... ORPHA:353277
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Hypocalcemia, Increased VLDL cholesterol concentrat... OMIM:243800
Trichodentoosseous Syndrome
OMIM:190320
Tricho-Dento-Osseous Syndrome
ORPHA:3352
Amelogenesis Imperfecta, Type Iv
OMIM:104510

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 Dlx3

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 Dlx3.

No publications found that use IMPC mice or data for Dlx3.

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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
Dlx3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Dlx3tm69(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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