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

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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.

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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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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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)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Lipedema
Edema OMIM:614103
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia OMIM:241500
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Complete atrioventricular canal defect, Self-mutilation, Aggressive behavior, Atte... ORPHA:476126
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression OMIM:600740
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polydipsia OMIM:617994
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:36913
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:95409
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Anorexia ORPHA:199299
White Sponge Nevus 2
Edema OMIM:615785
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Mild postnatal growth retardation, Pleural... OMIM:265300
Spinal Cord Injury
Hypercalcemia ORPHA:90058
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hyperammonemia, Hypocalcemia... ORPHA:26793
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Hypertriglyceridemia... ORPHA:369837
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Hypocalcemia, Truncus arteriosus, Ventricular septal... ORPHA:3426
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anorexia, Hypocalcemia, Hypomagnesemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocarditis, Abnormal ... ORPHA:31824
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hypoproteinemia ORPHA:90362
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Pheochromocytoma
Hypercalcemia OMIM:171300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability OMIM:264700
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... OMIM:618183
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypocalcemic Vitamin D-Dependent Rickets
Cardiomyopathy, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Williams Syndrome
Depression, Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Tetralogy of F... ORPHA:904
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Glucagonoma
Depression, Hypercalcemia, Anorexia ORPHA:97280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia, Pericardial effusion ORPHA:73224
Velocardiofacial Syndrome
Tetralogy of Fallot, Emotional lability, Hypocalcemia, Ventricular septal defect, Aggressive beha... OMIM:192430
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79444
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Ventricular septal defect OMIM:235255
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Edema, Congestive heart failure ORPHA:1054
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Hypocalcemia, Cardiomyopathy ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Patent foramen ovale OMIM:607143
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Ventricular septal defect ORPHA:1655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Hypocalcemia OMIM:618476
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79443
Multiple Endocrine Neoplasia Type 1
Depression, Hypercalcemia, Anorexia ORPHA:652
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Coronary artery stenosis, Obsessive-compulsive trait, Mitra... OMIM:194050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Celiac Disease, Susceptibility To, 1
Depression, Hypocalcemia OMIM:212750
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Ethylene Glycol Poisoning
Addictive alcohol use, Euphoria, Hyperkalemia, Hypocalcemia ORPHA:31826
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Pearson Syndrome
Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Hypocalcemia, Hypokalemia, Hypophospha... ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hypocalcemia, Hair-pulling, Ventr... OMIM:620330
Sotos Syndrome
Abnormal heart morphology, Ventricular septal defect, Aggressive behavior, Attention deficit hype... ORPHA:821
Craniofacioskeletal Syndrome
Atrial septal defect, Hypocalcemia, Ventricular septal defect OMIM:300712
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi... OMIM:619991
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Cartilage-Hair Hypoplasia
Cardiomyopathy, Hypocalcemia, Abnormal cardiac septum morphology ORPHA:175
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving, Pericardial... ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect ORPHA:163979
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
22Q11.2 Deletion Syndrome
Depression, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Hypocalcemia, Abnormal aort... ORPHA:567
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sarcoidosis
Hypercalcemia ORPHA:797
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Abnormal pulmonary valve morphology, Hypocalcemia ORPHA:667
Hennekam Syndrome
Pericardial effusion, Hypocalcemia ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Hypomagnesemia, Mitral atresia, Bruxism, Stereotypical body rocking, Musc... OMIM:619503
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hypocalcemia OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353281
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Hypocalcemia, Self-mutilation, Ventricular se... OMIM:214800
Digeorge Syndrome
Tetralogy of Fallot, Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Attention defic... OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Aortic valve stenosis, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353277
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Hypocalcemia, Ventricular septal defect, Increase... OMIM:243800
Tricho-Dento-Osseous Syndrome
ORPHA:3352
Amelogenesis Imperfecta, Type Iv
OMIM:104510
Trichodentoosseous Syndrome
OMIM:190320

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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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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