Gene Summary

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

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

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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

View all 244 images

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
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitude, Abnormal cranial... ORPHA:90117
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysph... ORPHA:99772
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly... OMIM:192445
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal... OMIM:612292
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Retrognathia, Downturned corners of mouth, Lobulated tongue, Cleft ... OMIM:620107
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Branchial fistula, Sensorineural hea... OMIM:602588
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hern... OMIM:616331
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Abnormal mandible morphology, Submucous cleft hard palate, Hypodontia, Arrhy... ORPHA:3201
Hydrolethalus
Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micrognathia, Submucous cleft ha... ORPHA:2189
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Sensorineural hearing ... OMIM:609166
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Hearing impairment, Branch... ORPHA:52429
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Hyperactivity, Pulmonic stenosis OMIM:619239
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Enlarged cochlear aqu... ORPHA:107
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Micrognathia, Esophageal atresia OMIM:614526
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia, Spina bifida, Death in infancy ORPHA:99742
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly,... ORPHA:1131
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Branchial cyst, Bra... OMIM:113650
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Micrognathia, Gingival overgrowth... OMIM:618529
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Increased nuchal translucency, Thin upper lip vermilion, Pierre-Robin sequence OMIM:620183
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention deficit hyperacti... OMIM:164220
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Frequent te... OMIM:619103
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck, Optic nerve hypoplasia OMIM:615583
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Hereditary Angioedema Type 1
Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina... ORPHA:100050
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia,... ORPHA:2780
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Micrognathia, Cleft soft palate ORPHA:93316
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Oligohydramnios, Smooth philtrum, Short philtrum ORPHA:293725
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Loeys-Dietz Syndrome 5
Bifid uvula, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Mitral regurgitation, H... OMIM:615582
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Accessory oral frenulum ORPHA:2756
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Cleft mandible, Micrognathia, Olig... OMIM:608670
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Pica, Cleft soft pal... OMIM:620450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Downturned corners of mouth, S... OMIM:619950
Arthrogryposis, Distal, Type 3
Bifid uvula, Micrognathia, Submucous cleft hard palate, High palate, Cleft palate OMIM:114300
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Malar flattening, Nonimm... OMIM:265300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Abnormal heart morphology, Atrioventricular canal ... ORPHA:453499
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp... ORPHA:199302
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Stickler Syndrome, Type I
Bifid uvula, Micrognathia, Malar flattening, Submucous cleft hard palate, Cleft palate, Pierre-Ro... OMIM:108300
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent hand flapping, Submucous cleft hard palate, Thin upper lip... OMIM:619680
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Unilateral cle... ORPHA:2588
Double Outlet Right Ventricle
Intestinal malrotation, Heart murmur, Narrow mouth, Submucous cleft hard palate, Tachycardia, Cle... ORPHA:3426
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Open mouth, Submucous cleft hard pa... OMIM:192430
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Tricuspid regurgitation, Submucous cl... OMIM:612863
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Tracheoesoph... OMIM:619227
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Protruding ear, Branchial cyst, Sensorineural hearing impairment ORPHA:435938
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate ORPHA:2804
Neu-Laxova Syndrome
Bifid uvula, Retrognathia, Micrognathia, Thick vermilion border, Submucous cleft hard palate, Eve... ORPHA:2671
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate ORPHA:178303
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Micrognathia, Pulmonary arterial hypertension, Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Spinal dysraphism, Mitral stenosis, Submucous cleft hard palate OMIM:617660
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Hypertrophic cardiomyopathy, Open bite, Microg... OMIM:115150
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Bifid uvula, Retrognathia, Oral synechia, M... ORPHA:2753
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, A... ORPHA:457279
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Narrow mouth, Malar flattening, Wide mouth, Abnormal parotid gla... OMIM:154500
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Hearing impairment, Optic disc coloboma ORPHA:2260
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Micrognathia, Submucous cleft soft palate, High palate,... ORPHA:168572
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Micrognathia, Submucous cleft hard palate OMIM:222765
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Thick vermil... OMIM:613805
Desmosterolosis
Bifid uvula, Retrognathia, Intestinal malrotation, Micrognathia, Narrow mouth, Submucous cleft ha... ORPHA:35107
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Malar flattening, Submucous cleft soft palate, Hypodontia, Cleft hard pal... ORPHA:69085
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Retrognathia, Widely spaced teeth, Oligohydramnios, ... ORPHA:268261
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Tricuspid regurgitation, Cleft soft palate, Mitral regurgitation, Polyhydramnios OMIM:614557
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal... ORPHA:2162
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Webbed neck, Abnormal helix morphology, Branchial fistula, Optic disc coloboma, Abn... ORPHA:261337
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Abnormal heart morphology, Increased nuchal translucency, Branchia... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Abnormal heart morphology, Increased nuchal translucency, Branchia... ORPHA:352665
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction cardiom... OMIM:300967
Hardikar Syndrome
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Portal hyperte... OMIM:301068
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Narrow m... ORPHA:2554
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micrognathia, Cleft soft palate, Narrow mouth, High palate, Dysphagia, Esophageal varix, Downturn... OMIM:619503
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Lymphedema, Hypertrophic cardiomyopathy, Submuco... ORPHA:1340
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee... OMIM:223370
Viss Syndrome
Micrognathia, Cleft soft palate, Celiac disease, High palate, Dysphagia, Duodenitis, High, narrow... OMIM:619472
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Micrognathia, Thi... OMIM:301022
Tolchin-Le Caignec Syndrome
Umbilical hernia, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention deficit hype... OMIM:618971
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Progressive sensorineural hearing impairme... OMIM:620186
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Oligohydramnios, Micrognathia, Narrow mouth, Subm... OMIM:275210
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Oligohydramnios, Submucous cleft hard palate, Microdontia, Thin upper lip vermilion... OMIM:619194
Walker-Warburg Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Diamond-Blackfan Anemia
Cleft lip, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis, Adenocarcinoma of the colo... ORPHA:124
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Micrognathia, Submucous c... ORPHA:235
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Abnormal earlobe morphology, Ventricular septal defect, Sensorineural hearing ... ORPHA:261330
Holoprosencephaly 13, X-Linked
Micrognathia, Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary ... OMIM:301043
Marden-Walker Syndrome
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention def... ORPHA:2461
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Facial hyperostosis, Abnormal dental enamel morphology, Wide mo... 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
Zttk Syndrome
Aortic regurgitation, Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Downt... OMIM:617140
Leprosy
Abnormal seventh cranial physiology, Enlarged peripheral nerve, Abnormal autonomic nervous system... ORPHA:548
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Pol... ORPHA:3047
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormal heart morphology, Atrioventricular canal defect, Asymmetry of the ears, ... ORPHA:508488
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum... OMIM:300166
Campomelic Dysplasia
Carious teeth, Spinal dysraphism, Long philtrum, Micrognathia, Narrow mouth, Irregular dentition,... OMIM:114290
Treacher-Collins Syndrome
Branchial fistula, Conductive hearing impairment, Narrow internal auditory canal, Encephalocele, ... ORPHA:861
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ... OMIM:157170
Restrictive Dermopathy
Microcolon, Natal tooth, Temporomandibular joint ankylosis, Small placenta, Micrognathia, Narrow ... ORPHA:1662
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Submucous cleft hard palate OMIM:618891
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Dilated cardiomyopathy, Cleft upper lip, Long philtrum, Oppositional defiant disorde... OMIM:607872
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Acromelic Frontonasal Dysostosis
Cleft upper lip, Encephalocele, Submucous cleft soft palate, Midline facial cleft, U-Shaped upper... OMIM:603671
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, D... ORPHA:261537
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Hypoplasia of the maxilla, Downturned corners of mouth, Transient ischemic attack, I... ORPHA:500150
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Open mouth, Everted lower lip vermilion, Motor stereoty... ORPHA:2152
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Narrow palate, Cleft palate OMIM:101400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hyphema, Open mouth, Motor stereotypy, Dysphagia, Short... ORPHA:261552
Branchiooculofacial Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Fusion of middle ear ossicles, B... OMIM:113620
Neuroocular Syndrome 1
Short uvula, Retrognathia, Downturned corners of mouth, Widely spaced teeth, Umbilical hernia, An... OMIM:619539
Coffin-Siris Syndrome 12
Velopharyngeal insufficiency, Celiac disease, Micrognathia, Submucous cleft hard palate, Heart mu... OMIM:619325
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Retrognathia, Micrognathia, Malar flattening, Submucous cleft hard palate, Thick ver... ORPHA:2636
Holt-Oram Syndrome
Long philtrum, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Micrognath... OMIM:142900
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Natal tooth, Retrognathia, Downturned corners of mouth, Narrow mout... ORPHA:3455
Craniofacial Microsomia 1
Duplicated tragus, Conductive hearing impairment, Atresia of the external auditory canal, Occipit... OMIM:164210
Witteveen-Kolk Syndrome
Cupped ear, Hearing impairment, Branchial fistula, Glue ear, Sensorineural hearing impairment, Pr... OMIM:613406
Mowat-Wilson Syndrome
Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced... OMIM:235730

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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