Gene Summary

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

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
preweaning lethality, complete penetrance Dlx3em1(IMPC)Mbp HOM   Early adult 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 1.70×10-07
abnormal heart morphology Dlx3em1(IMPC)Mbp HET Early adult 0.00
hemorrhage Dlx3em1(IMPC)Mbp HET E15.5 0.00
edema Dlx3em1(IMPC)Mbp HET E15.5 0.00
increased circulating alkaline phosphatase level Dlx3em1(IMPC)Mbp HET Early adult 9.19×10-07
increased circulating calcium level Dlx3em1(IMPC)Mbp HET   Early adult 4.87×10-05

Download data as:  TSV  XLS

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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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Gross Morphology Embryo E9.5

Images

2 Images

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
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Preeclampsia/Eclampsia 1
Hypertension, Edema, Intrauterine growth retardation OMIM:189800
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema 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
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
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
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
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
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypophosphatasia, Infantile
Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Complete atrioventricular canal defect, Compulsive behaviors,... ORPHA:476126
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autoimmune Hypoparathyroidism
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:36913
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Lymphatic Malformation 2
Lymphedema OMIM:611944
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Monosomy 13Q34
Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia ORPHA:199299
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
White Sponge Nevus 2
Edema OMIM:615785
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive... ORPHA:369837
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P... ORPHA:3426
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia OMIM:175500
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Colchicine Poisoning
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Pheochromocytoma
Hypercalcemia OMIM:171300
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... OMIM:618183
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:143
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A... ORPHA:2306
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... ORPHA:94093
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Glucagonoma
Hypercalcemia, Anorexia, Depression ORPHA:97280
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Velocardiofacial Syndrome
Ventricular septal defect, Aggressive behavior, Hypocalcemia, Emotional lability, Tetralogy of Fa... OMIM:192430
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... ORPHA:904
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Pseudohypoparathyroidism Type 1C
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... ORPHA:79444
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Hypoproteinemia, Hypocalcemia OMIM:235255
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Cardiomyopathy, Hypocalcemia ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia OMIM:607143
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Hypoproteinemia, Hypocalcemia ORPHA:1655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Hypocalcemia OMIM:618476
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Williams-Beuren Syndrome
Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Mitral valve prolapse, Obsessive... OMIM:194050
Pseudohypoparathyroidism Type 1A
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... ORPHA:79443
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Depression ORPHA:652
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Depression OMIM:212750
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Ethylene Glycol Poisoning
Addictive alcohol use, Hyperkalemia, Hypocalcemia, Euphoria ORPHA:31826
Osteopetrosis, Autosomal Recessive 5
Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Pearson Syndrome
Hypomagnesemia, Dysphagia, Abnormal heart morphology, Cardiomyopathy, Hypokalemia, Hypocalcemia, ... ORPHA:699
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... OMIM:620330
Liver Disease, Severe Congenital
Hyponatremia, Ventricular septal defect, Left atrial enlargement, Elevated circulating alpha-feto... OMIM:619991
Sotos Syndrome
Ventricular septal defect, Hypercalcemia, Aggressive behavior, Abnormal heart morphology, Attenti... ORPHA:821
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia OMIM:300712
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Gitelman Syndrome
Salt craving, Pericardial effusion, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, P... ORPHA:358
Cartilage-Hair Hypoplasia
Cardiomyopathy, Abnormal cardiac septum morphology, Hypocalcemia ORPHA:175
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Depression, Abnormal aortic valve... ORPHA:567
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Sarcoidosis
Hypercalcemia ORPHA:797
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Hypophosphatemia ORPHA:667
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia ORPHA:544482
Hennekam Syndrome
Pericardial effusion, Hypocalcemia ORPHA:2136
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Impulsivity, Muscular ventricular septal defect, Bruxi... OMIM:619503
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Hypocalcemia OMIM:218330
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353281
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... OMIM:214800
Digeorge Syndrome
Ventricular septal defect, Hypocalcemia, Attention deficit hyperactivity disorder, Truncus arteri... OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353277
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi... OMIM:243800
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
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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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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