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Gene: Arhgef11 MGI:2441869

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Arhgef11tm1b(KOMP)Wtsi HOM Early adult 1.54×10-11
increased aggression Arhgef11tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images 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)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 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)
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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Trachea N/A heterozygote 0.0% (0 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View 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, Retinal dystrophy, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism ORPHA:356996
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Joint contracture of the hand, Small for gestational age, Repetitive compulsive be... ORPHA:352490
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Christianson Syndrome
Cachexia, Arthrogryposis multiplex congenita, Abnormal repetitive mannerisms, Dysphagia ORPHA:85278
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adip... ORPHA:363400
Foxg1 Syndrome
Abnormal repetitive mannerisms, Decreased body weight, Bruxism, Stereotypical hand wringing ORPHA:561854
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Repetitive compulsive behavior, Diabetes mellitus, Failure to thrive, Attent... ORPHA:391372
48,Xxyy Syndrome
Type II diabetes mellitus, Abnormal repetitive mannerisms, Inguinal hernia, Attention deficit hyp... ORPHA:10
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism, Truncal obesity OMIM:613192
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Abnormal repetitive mannerisms ORPHA:280763
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Behavioral Variant Of Frontotemporal Dementia
Disinhibition, Restlessness, Collectionism, Abnormal repetitive mannerisms ORPHA:275864
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Hernia, Abnormal repetitive mannerisms ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Neonatal hypoglycemia, Attention deficit hyperactivity di... OMIM:617600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Abnormal repetitive mannerisms, Agitation ORPHA:927
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Abnormal repetitive mannerisms ORPHA:228402
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Abnormal repetitive mannerisms, Umbilical hernia ORPHA:500159
Cystinosis
Failure to thrive, Abnormal repetitive mannerisms, Type I diabetes mellitus, Polydipsia ORPHA:213
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors, Congenital diaphragmatic hernia, Attention ... ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Failure to thrive, Congenital diaphragmatic hernia, Attention def... ORPHA:261197
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Diabetes mellitus, Attent... ORPHA:449291
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:530983
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:313892
Alazami Syndrome
Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior ORPHA:319671
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Abnormal repetitive mannerisms ORPHA:457240
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:391307
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Smith-Magenis Syndrome
Obesity, Failure to thrive in infancy, Attention deficit hyperactivity disorder, Abnormal repetit... ORPHA:819
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Rett Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Agitation, Stereotypical hand wringing ORPHA:778
White-Sutton Syndrome
Hyperactivity, Ventral hernia, Abnormal repetitive mannerisms, Compulsive behaviors, Inguinal her... ORPHA:468678
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Transketolase Deficiency
Attention deficit hyperactivity disorder, Type I diabetes mellitus, Abnormal repetitive mannerism... ORPHA:488618
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:435638
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Decreased body weight, Bruxism, Dysphagia OMIM:300260
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:401777
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:238750
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Comp... ORPHA:476126
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:98784
7Q11.23 Microduplication Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Inguinal hernia, Congenital diaphragmatic hernia, ... ORPHA:96121
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe, Abnormal repetiti... ORPHA:457279
Kleefstra Syndrome
Obesity, Hernia, Abnormal repetitive mannerisms ORPHA:261494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation OMIM:607485
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:397612
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Abnormal repetitive mannerisms, Failure to thrive, Flexion contracture... ORPHA:464311
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Multiple joint contractures, Small for gestational age, Abnormal repetitive manner... ORPHA:464306
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivi... ORPHA:177907
Wiedemann-Steiner Syndrome
Failure to thrive, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:319182
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding ORPHA:64280
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Multiple joint contractures, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal repetitive mannerisms ORPHA:300570
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Knee flexion contracture, Multiple joint contractures, Abnormal repetiti... ORPHA:468631
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:2479
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:522077
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Elbow flexion contracture, Abnormal repetitive mannerisms ORPHA:508533
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Contractures of the large joints, Hyperactivity, Abnormal repetitiv... ORPHA:580
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Fai... ORPHA:513456
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Neonatal hypoglycemia ORPHA:66634
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Abnormal repetitive mannerisms ORPHA:457351
Oculocerebrorenal Syndrome Of Lowe
Abnormal repetitive mannerisms, Compulsive behaviors, Inguinal hernia, Failure to thrive, Attenti... ORPHA:534
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Keloids, Abnormal repetitive mannerisms, Compulsive behaviors, Failure to thrive, ... ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Decreased body weight, Tics, Repetitive compulsive behavior, Agitation, Failure to... OMIM:619475
Tuberous Sclerosis Complex
Hyperactivity, Repetitive compulsive behavior, Impulsivity, Attention deficit hyperactivity disor... ORPHA:805
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormal repetitive mannerisms, Failure to thrive, Polyphagia, Dysphagia... ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Keloids, Corneal scarring, Abnormal repetitive mannerisms, Compulsive behaviors, F... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Keloids, Corneal scarring, Abnormal repetitive mannerisms, Compulsive behaviors, F... ORPHA:353277
Norrie Disease
Cachexia, Abnormal repetitive mannerisms, Failure to thrive, Diabetes mellitus, Attention deficit... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Nmda Receptor Encephalitis
Abnormal repetitive mannerisms, Agitation ORPHA:217253
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Flexion contracture, Camptodactyly, Abnormal repetitive mannerisms, Failure to thrive, Dysphagia,... ORPHA:261537
Mowat-Wilson Syndrome
Flexion contracture, Decreased body weight, Camptodactyly, Abnormal repetitive mannerisms, Dyspha... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Flexion contracture, Camptodactyly, Abnormal repetitive mannerisms, Failure to thrive, Dysphagia,... 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

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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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