Gene Summary

Name:
Rho guanine nucleotide exchange factor 11
Synonyms:
Prg,  PDZ-RhoGEF

IMPC Data Collections

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
increased aggression Arhgef11tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05
abnormal retina morphology Arhgef11tm1b(KOMP)Wtsi HOM Early adult 2.48×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Ambiguous
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Human diseases caused by Arhgef11 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arhgef11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
N-Acetylaspartate Deficiency
Motor stereotypy, Inguinal hernia, Self-mutilation, Decreased body weight OMIM:614063
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for gestational age OMIM:609425
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Arthrogryposis multiplex congenita, Motor stereotypy OMIM:615282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Joint contracture OMIM:617393
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Umbili... ORPHA:352490
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Inguinal hernia, Aggressive behavior, Hyperactivity OMIM:618362
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Foxg1 Syndrome
Bruxism, Decreased body weight, Stereotypical hand wringing, Motor stereotypy, Paroxysmal bursts ... ORPHA:561854
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Hyperactivity,... OMIM:614104
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Christianson Syndrome
Inappropriate laughter, Motor stereotypy, Cachexia, Dysphagia, Arthrogryposis multiplex congenita ORPHA:85278
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Decreased body weight, Aggressive behavior, Attention deficit hyperactivity disorder, Hy... OMIM:618342
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Decreased body weight, Attention deficit hyperactivity disorder, Dysphag... OMIM:617695
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Inverted Duplicated Chromosome 15 Syndrome
Hernia, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Motor stereotypy ORPHA:280763
48,Xxyy Syndrome
Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Inguinal hernia, Attention... ORPHA:10
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Motor stereotypy, Small for gestatio... OMIM:610883
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hyperactivity, Self huggi... OMIM:182290
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing OMIM:618917
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight OMIM:618347
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Xq28 (MECP2) duplication
Motor stereotypy, Dysphagia, Failure to thrive DECIPHER:45
Lopes-Maciel-Rodan Syndrome
Motor stereotypy, Bruxism, Dysphagia, Agitation OMIM:617435
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:620242
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Inguinal hernia, Self-mutilation, Overfriendliness, Aggressive beh... OMIM:123450
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Umbilical hernia, Joint contracture of the 5th finger, Inguinal hernia, ... OMIM:618914
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Houge-Janssens Syndrome 3
Self-injurious behavior, Umbilical hernia, Inguinal hernia, Attention deficit hyperactivity disor... OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti... OMIM:300986
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Cyanosis, Aggressive behavior, Attention deficit hyperactivity disorder,... OMIM:619580
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Snijders Blok-Campeau Syndrome
Umbilical hernia, Inguinal hernia, Attention deficit hyperactivity disorder, Enamel hypoplasia, M... OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Umbilical hernia OMIM:617751
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Diabetes mellitus, Umbilical hernia ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Pica, Overweight, Motor stereotypy, Small for gestatio... OMIM:617796
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... OMIM:300912
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Motor stereotypy, Self-mutilation ORPHA:457240
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Agitation ORPHA:927
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl... OMIM:616364
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity diso... ORPHA:261197
Cystinosis
Type I diabetes mellitus, Polydipsia, Motor stereotypy, Failure to thrive ORPHA:213
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Enamel hypoplasia, Flexion contractur... OMIM:619293
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Small for gestational age, Compulsive behaviors OMIM:613174
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Bruxism, Decreased body weight, Repetitive compulsive behavior, Dysphagia, Motor stereotypy OMIM:300260
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disor... ORPHA:1001
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity ORPHA:530983
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity ORPHA:391307
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Radio-Tartaglia Syndrome
Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereoty... OMIM:619312
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy OMIM:619092
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy OMIM:613443
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy ORPHA:411986
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Overfriendliness, Umbilical hernia OMIM:616579
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:610042
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy, Failure to thrive, Enamel hypoplasia OMIM:615802
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Motor stereotypy, Dysphagia OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
White-Sutton Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:468678
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy OMIM:618004
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... ORPHA:819
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity ... OMIM:620494
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Rett Syndrome
Failure to thrive, Bruxism, Stereotypical hand wringing, Motor stereotypy, Agitation ORPHA:778
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy OMIM:619877
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia ORPHA:79264
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Failure to thrive OMIM:619695
Den Hoed-De Boer-Voisin Syndrome
Obesity, Stereotypical hand wringing, Decreased body weight, Amelogenesis imperfecta, Enamel hypo... OMIM:619229
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Comp... ORPHA:488618
Chromosome 15Q11.2 Deletion Syndrome
Elbow contracture, Attention deficit hyperactivity disorder, Joint contracture, Compulsive behavi... OMIM:615656
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder... ORPHA:476126
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Failure to thrive OMIM:300352
Ritscher-Schinzel Syndrome 4
Aggressive behavior, Motor stereotypy, Dysphagia, Impulsivity OMIM:619435
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
Kleefstra Syndrome
Self-injurious behavior, Obesity, Self-mutilation, Hernia, Aggressive behavior, Motor stereotypy ORPHA:261494
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Hypoglycemia, Contracture of the proximal interphalangeal joint of the ... ORPHA:457279
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Knee flexion contracture ORPHA:435638
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:619121
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy OMIM:617807
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy OMIM:619103
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy OMIM:610253
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Frequent temper tantrums, Attention def... OMIM:619575
Phelan-Mcdermid Syndrome
Cellulitis, Bruxism, Aggressive behavior, Tongue thrusting, Motor stereotypy OMIM:606232
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stere... OMIM:212066
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy OMIM:619428
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Self-mutilation OMIM:300486
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Agitation, Small for gestational age ORPHA:424
Bainbridge-Ropers Syndrome
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Contracture of the proximal ... OMIM:615485
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:96121
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Arthrogryposis multiplex congenita, Failure to thrive, Frequent temper t... OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Umbilical hernia, Obesity, Aggressive behavior, Motor stereotypy OMIM:301066
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation, Decreased body weight OMIM:619005
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Obesity, Skin-picking, Attention deficit hyperactivity di... ORPHA:177907
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Motor stereotypy, Dysphagia ORPHA:496641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Failure to thrive, Attention deficit hyperactivity disorder, Flexion c... ORPHA:464311
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Wiedemann-Steiner Syndrome
Failure to thrive, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Progressive flexion contractures, Self-biting, M... ORPHA:522077
Rett Syndrome, Congenital Variant
Bruxism, Tongue thrusting, Motor stereotypy OMIM:613454
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Multiple joint contractures, Hyperactivity, Motor stereotypy, Small for gestat... ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Ankle flexion contracture, Camptodactyly of finger, Multiple joint contr... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Failure to thrive, Violent behavior, Bruxism, Obesity, Decreased body weigh... OMIM:619475
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Contractures of the large joints, Umbilical hernia, Oppositional defian... ORPHA:580
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Dyspha... OMIM:615873
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Motor stereotypy, Inguinal hernia OMIM:618653
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy ORPHA:2479
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy ORPHA:300570
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Obesity, Agg... ORPHA:353281
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy, Umbilical hernia OMIM:301040
Kinsship Syndrome
Bruxism, Motor stereotypy, Failure to thrive OMIM:619297
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Elbow flexion contracture, Hypereosinophilia, Motor stereotypy ORPHA:508533
Developmental And Epileptic Encephalopathy 100
Elbow flexion contracture, Bilateral camptodactyly, Enamel hypoplasia, Dysphagia, Motor stereotypy OMIM:619777
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Stereotypical body rocking, Repetitive compulsive behavior, Lower-limb joint c... ORPHA:513456
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy OMIM:610954
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Camptodactyly, Flexion contracture, Motor stereotypy, Small for gestational age OMIM:309590
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal... ORPHA:534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
Developmental And Epileptic Encephalopathy 2
Motor stereotypy OMIM:300672
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Failure to thrive, Camptodactyly of finger, Corneal scarr... OMIM:309000
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia OMIM:607625
Ogden Syndrome
Umbilical hernia, Inguinal hernia, Dysphagia, Maternal diabetes, Minimal subcutaneous fat, Motor ... OMIM:300855
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301030
Primrose Syndrome
Self-injurious behavior, Glucose intolerance, Hip contracture, Knee flexion contracture, Aggressi... OMIM:259050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Corneal scar... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Corneal scar... ORPHA:353277
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Camptodactyly of finger, Obesity, Polyphagia, Dysphag... ORPHA:1606
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hiatus hernia, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Moto... OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Motor stereot... OMIM:301044
Norrie Disease
Self-injurious behavior, Failure to thrive, Attention deficit hyperactivity disorder, Cachexia, M... ORPHA:649
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Truncal obesity, Camptodactyly, Motor stereotypy OMIM:612474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Motor stereotypy OMIM:616682
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Dysphagia OMIM:617330
Arboleda-Tham Syndrome
Motor stereotypy, Dysphagia OMIM:616268
Wolf-Hirschhorn Syndrome
Motor stereotypy, Small for gestational age, Failure to thrive OMIM:194190
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive OMIM:619325
Nmda Receptor Encephalitis
Motor stereotypy, Agitation, Hypersexuality ORPHA:217253
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Bruxism, Dysphagia, Camptodactyly, Flexion contracture, Motor stereotypy ORPHA:261537
Mowat-Wilson Syndrome
Bruxism, Decreased body weight, Dysphagia, Camptodactyly, Flexion contracture, Motor stereotypy ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Bruxism, Dysphagia, Camptodactyly, Flexion contracture, Motor stereotypy ORPHA:261552

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 Arhgef11

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 Arhgef11.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Arhgef1 Plays a Vital Role in Platelet Function and Thrombogenesis. Journal of the American Heart Association (May 2019) Arhgef11tm1a(KOMP)Wtsi PMC6512111

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arhgef11tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Arhgef11tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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