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Gene: Grb2 MGI:95805

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Gene Summary

Name:
growth factor receptor bound protein 2
Synonyms:
N/A

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
preweaning lethality, complete penetrance Grb2tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal behavior Grb2tm1a(EUCOMM)Wtsi HET Early adult 7.64×10-05

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 50% (1 of 2)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 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 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Grb2tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI

View all 244 images

Grb2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Grb2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Grb2 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 Grb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... ORPHA:99772
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... OMIM:612292
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... OMIM:620107
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... ORPHA:3201
Hydrolethalus
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cl... ORPHA:2189
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... OMIM:616331
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Branchiootic Syndrome
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Atresia of the external audito... ORPHA:52429
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Sensorineural hearing impair... ORPHA:1131
Cleft Soft Palate
Cleft soft palate OMIM:119570
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia ORPHA:99742
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... ORPHA:100050
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Increased nuchal translucency, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... OMIM:619103
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Truncus arteriosus OMIM:615583
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long philtrum... OMIM:618529
Schilbach-Rott Syndrome
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... OMIM:164220
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... OMIM:113650
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Micrognathia ORPHA:166016
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Retrog... ORPHA:2780
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Retrognathia, Smooth philtrum, Oligohydramnios ORPHA:293725
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:608670
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Polyhydramnios, Micrognathia ORPHA:93316
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Polyhydramnios, Micrognathia, Carious teeth, Cleft lip, Pierre-... OMIM:117650
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia ORPHA:2756
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Velopharyngeal insufficiency, Non-midline cleft... ORPHA:199302
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Arthrogryposis, Distal, Type 3
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi... ORPHA:1071
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... ORPHA:2751
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Micrognathia OMIM:619122
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathi... OMIM:300990
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... OMIM:619680
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Stickler Syndrome, Type I
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... OMIM:108300
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Velocardiofacial Syndrome
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... OMIM:192430
Double Outlet Right Ventricle
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Heart murmur, Pul... ORPHA:3426
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... OMIM:618106
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Retrognathia, Tracheoesophageal fistula, Attenti... OMIM:619227
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear ORPHA:435938
W Syndrome
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Neu-Laxova Syndrome
Abnormality of the philtrum, Spina bifida, Micrognathia, Polyhydramnios, Trismus, Submucous cleft... ORPHA:2671
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Pulmonary arterial hypertension, Cleft soft palate, Micrognathia ORPHA:2282
Branchioskeletogenital Syndrome
Mandibular prognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Su... ORPHA:1299
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Tongue thru... OMIM:115150
Native American Myopathy
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... ORPHA:168572
Orofaciodigital Syndrome Type 4
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... ORPHA:2753
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis, Bifid uvula OMIM:617660
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... ORPHA:457279
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, High palate, Micrognathia OMIM:222765
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment ORPHA:2260
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte... ORPHA:69085
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Mitral regurgitation, Umbilical hernia OMIM:614557
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Desmosterolosis
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Narrow mouth, Re... ORPHA:35107
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Cleft soft palate, Aggressive behavior, Pyloric stenosis, Supernumerary too... ORPHA:268261
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive behavior,... OMIM:300967
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, S... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, S... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Prot... ORPHA:261337
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2554
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Fetal ascites, Micrognathia, Deep philtrum, Downturned co... OMIM:619503
Cardiofaciocutaneous Syndrome
Lymphedema, Submucous cleft hard palate, High palate, Hypoplasia of the zygomatic bone, Pulmonic ... ORPHA:1340
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Micrognathia, Carious teeth, Velopharyngeal insufficien... OMIM:223370
Hardikar Syndrome
Cleft soft palate, Portal hypertension, Intestinal malrotation, Hematemesis, Celiac disease, Esop... OMIM:301068
Tolchin-Le Caignec Syndrome
Micrognathia, Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder,... OMIM:618971
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Atrial septal defect, Mixed hearing impairment, Natal tooth, Facial palsy, Optic ... OMIM:620186
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Micrognathia, High, narrow palate, High p... OMIM:619472
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Restrictive Dermopathy 1
Natal tooth, Polyhydramnios, Micrognathia, Submucous cleft hard palate, Temporomandibular joint a... OMIM:275210
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis, Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinom... ORPHA:124
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... OMIM:619194
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Micrognathia, Malabsorption, Abnormality of the dentiti... ORPHA:235
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Sensorineural hearing impairment, Abnormal earlobe ... ORPHA:261330
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... OMIM:301043
Marden-Walker Syndrome
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hype... ORPHA:2461
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... ORPHA:2658
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment ORPHA:466950
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Zttk Syndrome
Aortic regurgitation, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ha... OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Bifid uvula, Retrognathia, Neoplasm of... ORPHA:3047
8Q24.3 Microdeletion Syndrome
Branchial cyst, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ears, Ventricu... ORPHA:508488
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... ORPHA:861
Campomelic Dysplasia
Irregular dentition, Spina bifida, Micrognathia, Carious teeth, Polyhydramnios, Submucous cleft h... OMIM:114290
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Restrictive Dermopathy
Natal tooth, Polyhydramnios, Micrognathia, Large placenta, Submucous cleft hard palate, Temporoma... ORPHA:1662
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors OMIM:618891
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, ... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Aggressive behavior, Cleft upper lip, Dilated cardiomyopathy, Submu... OMIM:607872
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum OMIM:619321
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening OMIM:101400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma... ORPHA:261537
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetiti... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... ORPHA:261552
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Short neck, Sensorineural hearing impairment, Low posteri... OMIM:113620
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten... OMIM:619539
Coffin-Siris Syndrome 12
Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Heart mu... OMIM:619325
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Malar flattening... ORPHA:2636
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... ORPHA:3455
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Sensorineural hearing impairment, Patent duct... OMIM:164210
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Witteveen-Kolk Syndrome
Branchial fistula, Uplifted earlobe, Sensorineural hearing impairment, Cupped ear, Protruding ear... OMIM:613406

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 Grb2

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 Grb2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Grb2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Grb2tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Grb2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Grb2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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