Gene Summary

Name:
roundabout guidance receptor 4
Synonyms:
1200012D01Rik,  Magic roundabout

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 Robo4tm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Robo4tm1.1(KOMP)Vlcg HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 3)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

20 Images

Adult LacZ

LacZ Images Section

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

Human diseases caused by Robo4 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 Robo4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aortic Valve Disease 3
Aortic valve stenosis OMIM:618496

The table below shows human diseases predicted to be associated to Robo4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia OMIM:609016
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Glucose intolerance, Hyp... OMIM:610947
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogly... ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Increased resting energy expenditure... ORPHA:369873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hypoglycemia ORPHA:35
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia ORPHA:438134
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoxem... ORPHA:2847
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Patent ductus arteriosus, Congenital diaphragmatic hernia, Respiratory i... ORPHA:1120
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Hypoglycemia OMIM:616483
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Congenital diaphragmatic hernia OMIM:300887
Emanuel Syndrome
Torticollis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Joint contracture, Aortic... OMIM:609029
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:139466
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1166
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosu... ORPHA:261344
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic va... ORPHA:96170
Cebalid Syndrome
Polymicrogyria, Congenital diaphragmatic hernia OMIM:618774
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Polyhydramnios, Oligohydramnios OMIM:263210
Cutis Laxa, Autosomal Recessive, Type Ia
Supravalvular aortic stenosis, Emphysema, Congenital diaphragmatic hernia, Oligohydramnios OMIM:219100
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Achilles tendon contracture, Patent ductus arter... ORPHA:363528
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphra... OMIM:613309
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
13Q12.3 Microdeletion Syndrome
Camptodactyly, Atopic dermatitis, Congenital diaphragmatic hernia, Upper eyelid edema ORPHA:412035
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Zaki Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:619648
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Joint contracture, Cutaneous telangiectasia, Congenital diaphragmati... OMIM:615919
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:1488
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:251071
Seckel Syndrome 9
Asthma, Congenital diaphragmatic hernia, Simplified gyral pattern, Polyhydramnios OMIM:616777
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Patent ductus arteriosus, Respiratory insufficiency, Pulmonic st... OMIM:601186
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Congenital diaphragmatic hernia ORPHA:2063
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Oculocerebrocutaneous Syndrome
Polymicrogyria, Congenital diaphragmatic hernia ORPHA:1647
Arterial Tortuosity Syndrome
Aortic regurgitation, Congenital diaphragmatic hernia, Flexion contracture, Hypertension, Ischemi... OMIM:208050
White-Sutton Syndrome
Patent ductus arteriosus, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
2Q37 Microdeletion Syndrome
Tracheomalacia, Eczema, Congenital diaphragmatic hernia ORPHA:1001
Thoracoabdominal Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:313850
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary arterial hypertension, Laryn... OMIM:618454
Mosaic Trisomy 1
Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal transl... ORPHA:1692
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia, Polyhydramnios OMIM:614080
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:1834
Focal Dermal Hypoplasia
Telangiectasia of the skin, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic he... ORPHA:2092
Oligomeganephronia
Hypertension, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:2311
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... OMIM:265000
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Hypertension, Neonatal respiratory distress, Congenital diap... OMIM:194080
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... ORPHA:1272
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Meacham Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Congenital diaphragmatic hernia ORPHA:3097
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Simplified gyral pattern, Tracheomalac... ORPHA:96121
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:958
Perlman Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Edema, Hypoplasia of the abdominal wall musculat... OMIM:267000
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polymicrogyria, Hydrops fetalis, Polyhydramnios OMIM:616546
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Vacterl/Vater Association
Congenital diaphragmatic hernia, Polyhydramnios ORPHA:887
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Halperin-Birk Syndrome
Aspiration, Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Stridor, Tracheomalacia, Recurrent asp... ORPHA:2745
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Bradycardia, Emphysema, Pulmonary insufficiency, Oligohydramnios OMIM:614437
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrops fetalis, Congenital diaphragmatic hernia ORPHA:268249
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonic stenosi... ORPHA:2255
Pagod Syndrome
Sudden cardiac death, Arrhythmia, Abnormality of neuronal migration, Congenital diaphragmatic hernia ORPHA:991
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Pul... OMIM:600001
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Fryns Syndrome
Congenital diaphragmatic hernia, Polyhydramnios ORPHA:2059
Cardiac-Urogenital Syndrome
Tachycardia, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Tra... OMIM:618280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Holoprosencephaly
Arrhythmia, Congenital diaphragmatic hernia, Abnormality of neuronal migration, Respiratory insuf... ORPHA:2162
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Polymicrogyria, Congenital diaphragmatic hernia OMIM:154400
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia, Congenital diaphragmatic... OMIM:309801
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:3380
Distal Deletion 15Q
Patent ductus arteriosus, Mitral stenosis, Congenital diaphragmatic hernia ORPHA:1596
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:373
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Lissencephaly, Polyhydramnios ORPHA:63259
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... ORPHA:2556
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Increased nuchal translucency, Congenital diaphragmatic hernia, Polyhyd... ORPHA:818
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Pneumonia, Congenital diaphragmatic hernia OMIM:122470
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia, Oligohydramnios OMIM:200980
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency, Oligohydramnios OMIM:617641
Hydrolethalus Syndrome 1
Gray matter heterotopia, Agenesis of the diaphragm, Abnormal cortical gyration, Polyhydramnios OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Polyhydramnios, Congenital diap... OMIM:312870
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Polyhydramnios, Leiomyosarcom... ORPHA:116
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios OMIM:618846
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Witteveen-Kolk Syndrome
Eczema, Congenital diaphragmatic hernia, Polyhydramnios, Contracture of the distal interphalangea... OMIM:613406
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia ORPHA:280
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Polyhydram... ORPHA:1308
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Coffin-Siris Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:135900
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Congenital diaphragmatic hernia OMIM:157800
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Telangiectasia OMIM:305600
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Patent ductus arter... OMIM:601803
Cornelia De Lange Syndrome
Increased nuchal translucency, Congenital diaphragmatic hernia ORPHA:199
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Aortic Valve Disease 3
Aortic valve stenosis OMIM:618496

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 Robo4

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 Robo4.

No publications found that use IMPC mice or data for Robo4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Robo4tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Robo4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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