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, 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 100% (1 of 1)
Prostate gland  Section images heterozygote 100% (1 of 1)
Submandibular gland  Section images heterozygote 100% (1 of 1)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
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 1)
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
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 1)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
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 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Decreased body weight, Hypoglycemia ORPHA:314811
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy OMIM:609016
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Glucose intolerance, Impaired glucose tolerance, Myocardial infarction, Diabetes me... OMIM:610947
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational... ORPHA:324575
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal di... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Small for gestational age, Failure to thrive, Arrhythmia OMIM:614702
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:99811
Propionic Acidemia
Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Obesity Due To Sim1 Deficiency
Glucose intolerance, Postural hypotension with compensatory tachycardia, Obesity, Hyperinsulinemi... ORPHA:369873
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Cardiomyopathy ORPHA:67048
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:261102
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Telangiectasia of the skin, Retinal telangiectasia ORPHA:438134
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
Hypoxemia, Neonatal respiratory distress, Palpitations, Congenital diaphragmatic hernia, Aplasia ... ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia OMIM:617872
Glucocorticoid Resistance, Generalized
Hypertension, Hypoglycemia OMIM:615962
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hypoglycemia, Failure to thrive, Recurrent hypoglycemia, Impaired gl... OMIM:212140
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory dist... ORPHA:2140
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Diabetes mellitus, Glycosuria, Large for gestational age OMIM:616026
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Respiratory insufficiency, Tricuspid regurgitation, Patent ductu... ORPHA:1120
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypoglycemia, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy OMIM:616483
Serkal Syndrome
Congenital diaphragmatic hernia, Oligohydramnios, Pulmonic stenosis ORPHA:139466
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure OMIM:611126
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1166
Emanuel Syndrome
Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:609029
Cutis Laxa, Autosomal Recessive, Type Ia
Supravalvular aortic stenosis, Congenital diaphragmatic hernia, Emphysema, Oligohydramnios OMIM:219100
13Q12.3 Microdeletion Syndrome
Atopic dermatitis, Obstructive sleep apnea, Congenital diaphragmatic hernia, Upper eyelid edema, ... ORPHA:412035
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Emanuel Syndrome
Truncus arteriosus, Congenital diaphragmatic hernia, Cough, Patent ductus arteriosus, Pulmonic st... ORPHA:96170
Cebalid Syndrome
Congenital diaphragmatic hernia, Polymicrogyria OMIM:618774
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm OMIM:601163
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Oligohydramnios, Flexion contracture, Polyhydramnios OMIM:263210
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Respiratory distress, Patent ductus arteriosus OMIM:613309
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Trisomy 1Q
Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Increased nuchal trans... ORPHA:261344
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Congenital diaphragmatic hernia, Achilles tendon contract... ORPHA:363528
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Arterial Tortuosity Syndrome
Hypertension, Congenital diaphragmatic hernia, Aortic regurgitation, Telangiectases of the cheeks... OMIM:208050
Microphthalmia, Syndromic 9
Truncus arteriosus, Respiratory insufficiency, Congenital diaphragmatic hernia, Patent ductus art... OMIM:601186
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Respiratory insufficiency, Camptodactyly of finger ORPHA:1488
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:251071
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
Seckel Syndrome 9
Congenital diaphragmatic hernia, Asthma, Simplified gyral pattern, Polyhydramnios OMIM:616777
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Congenital diaphragmatic hernia ORPHA:2063
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Polymicrogyria, Laryngotracheomalacia, Patent ductus arteriosus OMIM:618454
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Respiratory distress OMIM:606164
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal translucency, Polymicrogyria, C... ORPHA:1692
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Polymicrogyria ORPHA:1647
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Eczema, Tracheomalacia ORPHA:1001
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus OMIM:313850
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:1834
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polymicrogyria, Hydrops fetalis, Polyhydramnios OMIM:616546
Oligomeganephronia
Congenital diaphragmatic hernia, Hypertension, Dehydration ORPHA:2260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Patent ductus arteriosus, Polyhydramnios OMIM:614080
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Telangiectasia of the skin, Patent ductus arteriosus, Diastasis ... ORPHA:2092
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ca... ORPHA:1272
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Pneumothorax, Camptodactyly OMIM:617602
Perlman Syndrome
Ascites, Congenital diaphragmatic hernia, Edema, Polyhydramnios, Hypoplasia of the abdominal wall... OMIM:267000
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Simplified gyral pattern, Aortic valve... ORPHA:96121
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Respiratory insufficiency, Camptodactyly of finger ORPHA:2311
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Diaphragmatic eventration OMIM:222448
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Meacham Syndrome
Congenital diaphragmatic hernia, Aortic valve stenosis, Patent ductus arteriosus ORPHA:3097
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Hypertension OMIM:194080
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Vacterl/Vater Association
Congenital diaphragmatic hernia, Polyhydramnios ORPHA:887
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Congenital diaphragmatic hernia, Bradycardia, Oligohydramnios, Emphysema OMIM:614437
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:958
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Aspiration, Flexion contracture OMIM:618651
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Bilateral camptodactyly, Congenital diaphragmatic hernia, Arthrogr... OMIM:265000
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Abnormality of neuronal migration, Arrhythmia ORPHA:991
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Tracheomalacia, Hydrops fetalis ORPHA:268249
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia, Obstructive sleep apnea ORPHA:468678
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonic stenosis, Respiratory distres... ORPHA:2255
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Patent du... OMIM:600001
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Congenital diaphragmatic hernia, Patent ductus arteriosu... ORPHA:2745
Fryns Syndrome
Congenital diaphragmatic hernia, Polyhydramnios ORPHA:2059
Holoprosencephaly
Abnormality of neuronal migration, Congenital diaphragmatic hernia, Arrhythmia, Respiratory insuf... ORPHA:2162
Iniencephaly
Congenital diaphragmatic hernia, Lissencephaly, Arthrogryposis multiplex congenita, Polyhydramnios ORPHA:63259
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Trisomy 18
Congenital diaphragmatic hernia, Oligohydramnios, Camptodactyly of finger ORPHA:3380
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Arrhythmia, Histiocytoid cardiomyopathy OMIM:309801
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Prolonged QT interval, Macroglossia, Congen... ORPHA:373
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:245600
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Congenital diaphragmat... ORPHA:2556
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Increased nuchal translucency, Patent ductus arteriosus, Polyhyd... ORPHA:818
Distal Monosomy 15Q
Congenital diaphragmatic hernia, Mitral stenosis, Patent ductus arteriosus ORPHA:1596
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Agenesis of the diaphragm, Polyhydramnios OMIM:236680
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Pneumonia, Elbow flexion contracture OMIM:122470
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Oligohydramnios, Respiratory insufficiency OMIM:617641
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Oligohydramnios, Elbow flexion contracture OMIM:200980
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Macroglossia, Congenital diaphragmatic hernia, Right ventricular h... OMIM:312870
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Rhabdomyosarcoma, Macroglossia, Congenital diaphragmatic hernia, Lei... ORPHA:116
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios OMIM:618846
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Polyhydramnios OMIM:613406
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia ORPHA:280
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
C Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Polyhydram... ORPHA:1308
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Patent ductus arteriosus OMIM:135900
Focal Dermal Hypoplasia
Telangiectasia, Diastasis recti, Congenital diaphragmatic hernia OMIM:305600
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle ORPHA:2911
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Contracture of the proximal interphalangeal joint of the 3rd fin... OMIM:301044
Pallister-Killian Syndrome
Hypertrophic cardiomyopathy, Apneic episodes in infancy, Camptodactyly of 2nd-5th fingers, Macrog... OMIM:601803
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Increased nuchal translucency ORPHA:199
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.

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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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