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

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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 0.68% (3 of 443)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyer's patch 0.76% (1 of 132)
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
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
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate, Oral-pharyngeal dysph... ORPHA:99772
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Mandibular prognathia, Submucous cleft har... ORPHA:2521
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Malar flattening OMIM:300850
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Pursed lips, Cleft palate, Retrognathia, Thin vermilion border, Bifid ... OMIM:619110
Anencephaly 2
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... OMIM:192445
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude ORPHA:90117
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Micrognathia, Abnormality of the dentition, Long philtrum, Bifid uvula... ORPHA:576283
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Tooth agenesis, Death in adolescence, Death in early adulthood, Dilated cardiomyopathy, Ventricul... OMIM:605676
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequ... OMIM:604841
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Arrhythmia, Abnormal mandible morphology, Submucou... ORPHA:3201
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Hydrolethalus
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencepha... ORPHA:2189
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Hypodontia, Absent cupid's bow... ORPHA:2919
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Birk-Barel Syndrome
High palate, Microretrognathia, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented ... OMIM:612292
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Retrognathia, Bifid uvula, Unilateral cleft lip, Cleft soft palate ORPHA:2736
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Temple Syndrome
High palate, Cleft palate, Micrognathia, Short philtrum, Bifid uvula OMIM:616222
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Micrognathia, Cleft soft palate ORPHA:93316
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Retrognathia, Thin vermilion border, Death in childhood,... OMIM:612938
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Amish Lethal Microcephaly
Micrognathia, Spina bifida, Death in infancy, Cleft soft palate ORPHA:99742
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... OMIM:617412
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... OMIM:609166
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Thin vermilion border, Micrognathia, Short philtrum,... OMIM:608572
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, High, narrow palate, Micrognathia, Bifid uvula, Umbilical hern... ORPHA:2872
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... OMIM:618779
Diamond-Blackfan Anemia 6
Cleft upper lip, Cleft palate, Retrognathia, Micrognathia, Mitral regurgitation, Bifid uvula OMIM:612561
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Branchial fistula, Atresia of th... ORPHA:52429
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathi... OMIM:616331
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Bifid uvula, Thick lower lip vermilion OMIM:618658
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate OMIM:619239
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... ORPHA:137888
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... OMIM:618622
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eru... ORPHA:2780
X-Linked Mandibulofacial Dysostosis
Sensorineural hearing impairment, Abnormal mitral valve morphology, Conductive hearing impairment... ORPHA:1131
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... ORPHA:2712
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Afibrinogenemia, Congenital
Subdural hemorrhage, Hematemesis, Death in childhood, Death in adolescence, Neonatal death, Epidu... OMIM:202400
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Tongue edema, ... ORPHA:100050
Schilbach-Rott Syndrome
Micrognathia, Narrow mouth, Bifid uvula, Submucous cleft hard palate OMIM:164220
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Micrognathia, Short philtrum, Bifid uvula, Pyloric stenosis ORPHA:96184
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Dilatated internal aud... OMIM:113650
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Pai Syndrome
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele ORPHA:1993
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Dental crowding, Aortic valve stenosis, Tooth malpositio... ORPHA:96170
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... ORPHA:3473
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Micrognathia, Bifid uvula, Submucous cleft hard palate OMIM:114300
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Bifid ... ORPHA:1790
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Temple Syndrome
Polyphagia, Bifid uvula ORPHA:254516
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Bifid uvula, Cleft palate OMIM:300958
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Micrognathia, Delayed eruption of teeth, Bifid uvula, Polyhydramnios, Cleft hard pa... OMIM:300990
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Stickler Syndrome, Type I
Cleft palate, Malar flattening, Micrognathia, Bifid uvula, Pierre-Robin sequence, Submucous cleft... OMIM:108300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Bifid uvula, Delayed eruption of teeth OMIM:612350
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Persistent fetal circulation, High, narrow palate, Tricuspid regurgitation, Long phi... OMIM:612863
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Downturned corner... ORPHA:404440
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... OMIM:614701
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Meckel Syndrome 12
Micrognathia, Oligohydramnios, Bifid uvula OMIM:616258
Moebius Syndrome
High palate, Micrognathia, Abnormality of the dentition, Bifid uvula, Dysphagia OMIM:157900
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate OMIM:619314
Myhre Syndrome
Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ... ORPHA:2588
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Mandibular prognathia, Thick lower lip... OMIM:619103
Double Outlet Right Ventricle
Narrow mouth, Cleft palate, Intestinal malrotation, Pulmonic stenosis, Tachycardia, Heart murmur,... ORPHA:3426
Cree Mental Retardation Syndrome
Micrognathia, Cleft soft palate OMIM:606851
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Hypoplasia of the maxilla, Submucous cleft hard palate ORPHA:178303
Autosomal Recessive Centronuclear Myopathy
Retrognathia, Narrow mouth, Bifid uvula, High palate ORPHA:169186
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... OMIM:618106
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Oligohydramnios, Smooth philtrum ORPHA:293725
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Aortic valve stenosis, Bifid uvula, Spinal dysraphism, Submucous cleft hard palate OMIM:617660
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Telangiectasia, Micrognathia, Short philtrum, Bifid uvula, Downturned corners of mou... ORPHA:247262
Neu-Laxova Syndrome
Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Bifid uvula, Polyhydramnio... ORPHA:2671
Orofaciodigital Syndrome Type 2
High palate, Taurodontia, Agenesis of central incisor, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Cri-Du-Chat Syndrome
High palate, Microretrognathia, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Ora... OMIM:123450
Pallister W Syndrome
Agenesis of maxillary central incisor, Agenesis of central incisor, Broad uvula, Submucous cleft ... OMIM:311450
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Micrognathia, Oligodontia... OMIM:608670
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Micrognathia, Bifid uvula, Cleft palate OMIM:606164
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Abnormal helix morphology, Abnormal autonomic nervou... ORPHA:453499
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Bifid uvula, Cleft palate OMIM:614175
15Q Overgrowth Syndrome
High palate, Microretrognathia, High, narrow palate, Malar flattening, Tricuspid regurgitation, R... ORPHA:314585
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... ORPHA:1299
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Glossoptosis, Micrognathia, Bifid uvula, Polyhydramnios ORPHA:1427
Orofaciodigital Syndrome Type 4
Anal atresia, Abnormality of the tongue, High, narrow palate, Cleft palate, Retrognathia, Microgn... ORPHA:2753
1Q41Q42 Microdeletion Syndrome
Thick vermilion border, Cleft palate, Submucous cleft hard palate ORPHA:250999
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Polyhydramnios, Supernumerary maxillary in... ORPHA:199302
Megalocornea-Mental Retardation Syndrome
High palate, Micrognathia, Long philtrum, Bifid uvula, Dysphagia OMIM:249310
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate ORPHA:2756
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Malar flattening, Chylous ascites, Palpebral edema, Nonimmune hydrops ... OMIM:265300
Chromosome 18Q Deletion Syndrome
Cleft upper lip, U-Shaped upper lip vermilion, Aortic valve stenosis, Cleft palate, Malar flatten... OMIM:601808
Meier-Gorlin Syndrome 5
Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Submucous cleft h... OMIM:613805
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Retrognathia, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atres... OMIM:619227
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear ORPHA:435938
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Open bite, Pulmonic stenosis, Micrognathia, Abnormality of the ... OMIM:115150
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Retrognathi... OMIM:615582
Desmosterolosis
Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Intestinal malrotation, Bifid uvula, Subm... ORPHA:35107
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Malar flattening, Submucous cleft soft palate, Bifid uvula, Cleft lip, ... ORPHA:69085
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Cleft palate, Retrognathia, Umbilical hernia, Open mouth, Pierre-Ro... OMIM:192430
Osteopathia Striata With Cranial Sclerosis
High palate, Dental malocclusion, Cleft upper lip, Anal atresia, Paranasal sinus hypoplasia, Clef... OMIM:300373
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Mala... OMIM:154780
Congenital Disorder Of Glycosylation, Type It
Cleft palate, Micrognathia, Sudden cardiac death, Tachycardia, Bifid uvula, Dilated cardiomyopath... OMIM:614921
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula, Hypoplasia of ... ORPHA:87
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Short philtrum, Long philtrum, Bifid uvula, Downturned corners of mo... OMIM:619121
Cerebrocostomandibular Syndrome
High palate, Malar flattening, Glossoptosis, Micrognathia, Abnormality of the dentition, Short ha... OMIM:117650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Micrognathia, Long philtrum, Bifid uvula OMIM:241410
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Narrow mouth, Microretrognathia, Cleft palate, Micrognathia, Bifid uvula, Cleft mand... OMIM:268305
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Malar flattening, Cleft palate, Long philtrum, Delayed eruption of teeth... OMIM:607812
Oligomeganephronia
Branchial cyst, Hearing impairment, Secundum atrial septal defect, Optic disc coloboma ORPHA:2260
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micrognathia, Oligohydramnios, Hypoplasia of the tooth germ, Bifid uvula ORPHA:293967
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Dental malocclusion, Hypodontia, Fragile teeth, Micrognathia, Bifid ... ORPHA:2959
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Loeys-Dietz Syndrome 4
High palate, High, narrow palate, Eosinophilic infiltration of the esophagus, Retrognathia, Bifid... OMIM:614816
Ear-Patella-Short Stature Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Hypopla... ORPHA:2554
White-Sutton Syndrome
High palate, Malar flattening, Cleft palate, Thin vermilion border, Micrognathia, Short philtrum,... OMIM:616364
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... ORPHA:2250
Holoprosencephaly
Abnormal pulmonary valve morphology, Abnormal antihelix morphology, Short neck, External ear malf... ORPHA:2162
Walker-Warburg Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Cardiofaciocutaneous Syndrome
High palate, Pulmonic stenosis, Long philtrum, Hypoplasia of the zygomatic bone, Lymphedema, Hype... ORPHA:1340
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Micrognathia, Pulmonary arterial hypertension, Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Re... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Pulmonic stenosis, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia OMIM:615802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Pyloric stenosis, Thin upper lip vermilion, Submucous cleft hard palate ORPHA:457279
Native American Myopathy
High palate, Cleft palate, Micrognathia, Submucous cleft soft palate, Bifid uvula, Downturned cor... ORPHA:168572
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, Dental crowding, Mandibular progn... OMIM:309583
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Holoprosencephaly 3
Cleft palate, Malar flattening, Bifid uvula, Cleft lip, Solitary median maxillary central incisor OMIM:142945
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Abnormal antihelix morphology, Low-set ears, Protruding ear, Abnormal h... ORPHA:261337
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... OMIM:211380
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Malar flattening, Bifid uvula, Pierre-Robin sequence, Cervical myelopathy OMIM:183900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Sensorineural hearing impairment, Conductive hearing impairment, Bicuspid aortic valve, Protrudin... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Bicuspid aortic valve, Protrudin... ORPHA:352665
Restrictive Dermopathy 1
Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Short umbilical cord, Neonatal dea... OMIM:275210
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Malar flattening, Micrognathia, Abnormal parotid gland mo... OMIM:154500
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Bifid uvula, Spina bifida occulta, Lower lip pit, Fibrous syngnathia OMIM:119500
Dubowitz Syndrome
High palate, Velopharyngeal insufficiency, Micrognathia, Agenesis of permanent teeth, Delayed eru... OMIM:223370
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Bifid uvula, High palate OMIM:300472
Holoprosencephaly 13, X-Linked
Duodenal atresia, Median cleft palate, Cleft palate, Micrognathia, Solitary median maxillary cent... OMIM:301043
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, High, narrow palate, Cleft palate, Retrognathia, Eclabion, Short philtrum, Microdonti... OMIM:619950
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide mouth, Macroglossia, Retrognathia, Microdontia, Thin lower lip vermilion, Deep philtrum, Thi... OMIM:619194
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Mitral regurgitation, Polyhydramnios, Umbilical hernia, Cleft soft palate OMIM:614557
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Bifid uvula, Submucous cleft hard palate, Thick ve... ORPHA:2658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Triangular mouth, Tricuspid regurgitation, Pulmonic stenosis, Mitral regurgitation, ... OMIM:617506
Tolchin-Le Caignec Syndrome
High palate, Narrow mouth, Micrognathia, Umbilical hernia, Submucous cleft hard palate OMIM:618971
Dubowitz Syndrome
High palate, Wide mouth, Malabsorption, Micrognathia, Abnormality of the dentition, Delayed erupt... ORPHA:235
Desbuquois Dysplasia 2
Hypodontia, Cleft palate, Long philtrum, Bifid uvula, Dental crowding OMIM:615777
Trichohepatoenteric Syndrome 1
Wide mouth, Narrow mouth, Pulmonic stenosis, Long philtrum, Bifid uvula, Polyhydramnios, Villous ... OMIM:222470
Alg9-Cdg
Wide mouth, Microretrognathia, Tricuspid regurgitation, Micrognathia, Hydrops fetalis, Long philt... ORPHA:79328
Marden-Walker Syndrome
Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Pyloric stenosis, Submucous ... ORPHA:2461
Zttk Syndrome
High palate, Narrow mouth, Intestinal atresia, Thin vermilion border, Abnormality of the dentitio... OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Micrognathia, Bifid uvula, Polyhydramnios, Neoplasm of the tongue, Submucous cleft ... ORPHA:3047
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Micrognathia, Bifid uvula, Microd... OMIM:266920
Meester-Loeys Syndrome
Mitral regurgitation, Bifid uvula, Malar flattening OMIM:300989
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Malar flattening, Delayed eruptio... OMIM:101200
Distal 22Q11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Atrial septal defect, Branchial fistula, Ventricular septal def... ORPHA:261330
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Smooth phil... OMIM:300968
Frontofacionasal Dysplasia
Cleft upper lip, Malar flattening, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia ... OMIM:229400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Aortic valve stenosis, Retrognathia, Pyloric stenosis, Widely spaced teeth, ... ORPHA:268261
Campomelic Dysplasia
High palate, Narrow mouth, Cleft palate, Micrognathia, Long philtrum, Carious teeth, Polyhydramni... OMIM:114290
Microphthalmia, Syndromic 2
Dental malocclusion, Supernumerary tooth, Persistence of primary teeth, Aortic valve stenosis, Ra... OMIM:300166
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula OMIM:601552
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Hearing impairment, Posteriorly rotated ears, Branchial anomaly ORPHA:466950
Hardikar Syndrome
Hematemesis, Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal va... OMIM:301068
Lacrimoauriculodentodigital Syndrome
Hypodontia, Corneal neovascularization, Micrognathia, Abnormality of the dentition, Xerostomia, M... ORPHA:2363
Restrictive Dermopathy
Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Short umbilical cord, Large placen... ORPHA:1662
Leprosy
Enlarged peripheral nerve, Abnormal autonomic nervous system physiology, Abnormality of the seven... ORPHA:548
Viss Syndrome
High palate, Chronic gastritis, Broad uvula, Umbilical hernia, High, narrow palate, Retrognathia,... OMIM:619472
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus OMIM:617159
Frontometaphyseal Dysplasia 2
High palate, Cleft palate, Pulmonic stenosis, Short philtrum, Bifid uvula, Pyloric stenosis, Deep... OMIM:617137
Van Esch-O'Driscoll Syndrome
Wide mouth, Retrognathia, Tracheoesophageal fistula, Bifid uvula, Spina bifida occulta, Downturne... OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Narrow mouth, Left ventricular noncompaction cardiomyopathy, High, narrow palate, Mal... OMIM:300967
Blackfan-Diamond Anemia
High palate, Micrognathia, Nonimmune hydrops fetalis, Adenocarcinoma of the colon, Cleft lip, Cle... ORPHA:124
Trisomy 8P
Cleft palate, Retrognathia, Thin vermilion border, Malrotation of small bowel, Bifid uvula, Heart... ORPHA:264450
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Malar flattening, Abnormality of dental eruption,... OMIM:211910
Loeys-Dietz Syndrome
High palate, Malar flattening, Micrognathia, Bifid uvula, Oral cleft, Cardiac arrest ORPHA:60030
Tetrasomy 9P
High palate, Abnormal number of permanent teeth, Cleft palate, Raynaud phenomenon, Micrognathia, ... ORPHA:3310
Aprosencephaly And Cerebellar Dysgenesis
Micrognathia, Bifid uvula OMIM:601374
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Pulmonic stenosis... ORPHA:284984
Treacher-Collins Syndrome
Conductive hearing impairment, Microtia, Branchial fistula, Patent ductus arteriosus, Narrow inte... ORPHA:861
Holoprosencephaly 2
Malar flattening, Bifid uvula, Bilateral cleft lip and palate, Aplasia of the premaxilla, Median ... OMIM:157170
Ring Chromosome 7 Syndrome
Narrow mouth, Median cleft palate, Cleft palate, Malar flattening, Thin vermilion border, Short p... ORPHA:1449
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Joint swelling, Wide mouth, Narrow mouth, Dental crowding, Cleft soft palate, Microg... OMIM:619503
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Cleft upper lip, Malar flattening, Long philtrum, Bifid uvula, Oral cleft, Polyphagi... OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cleft palate, Malar flattening, Retrognathia, Micrognathia, Bifid uvula, Thick vermilion border, ... ORPHA:2636
Saethre-Chotzen Syndrome
Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Hypoplasia of the maxilla OMIM:101400
Smith-Lemli-Opitz Syndrome
Microretrognathia, Cleft palate, Intestinal malrotation, Micrognathia, Broad alveolar ridges, Lon... OMIM:270400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Pul... ORPHA:261537
Semilobar Holoprosencephaly
High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... ORPHA:220386
Alobar Holoprosencephaly
High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... ORPHA:93926
Lobar Holoprosencephaly
High palate, Cleft palate, Bifid uvula, Neural tube defect, Solitary median maxillary central inc... ORPHA:93924
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Abn... ORPHA:261552
Baller-Gerold Syndrome
High palate, Anal atresia, Narrow mouth, Cleft palate, Micrognathia, Bifid uvula, Spina bifida oc... OMIM:218600
Mowat-Wilson Syndrome
Dental crowding, Gingival overgrowth, Aortic valve stenosis, Tooth malposition, Cleft palate, Ent... ORPHA:2152
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate OMIM:618891
Loeys-Dietz Syndrome 1
Cleft palate, Malar flattening, Retrognathia, Micrognathia, Eosinophilic infiltration of the esop... OMIM:609192
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Microtia, Overfold... OMIM:113620
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Narrow mouth, Bifid uvula, Cleft palate OMIM:130070
Neuroocular Syndrome
Retrognathia, Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Inc... OMIM:619539
Coffin-Siris Syndrome 12
High palate, Velopharyngeal insufficiency, Micrognathia, Heart murmur, Celiac disease, Submucous ... OMIM:619325
Frontometaphyseal Dysplasia
Cleft palate, Micrognathia, Oligodontia, Bifid uvula, Spina bifida occulta ORPHA:1826
Steinfeld Syndrome
Median cleft lip and palate, Bifid uvula OMIM:184705
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Smooth philtrum, Cleft soft palate, Intestinal malrotation OMIM:619321
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cleft palate, Thin vermilion border, Short philtrum, Submucous cleft soft palate, Bifid uvula, Do... ORPHA:500150
Loeys-Dietz Syndrome 3
High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Eosinophilic infi... OMIM:613795
Mowat-Wilson Syndrome
Tooth malposition, Cleft palate, Pulmonic stenosis, Delayed eruption of teeth, Pyloric stenosis, ... OMIM:235730
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Narrow mouth, Bifid uvula, Exaggerated cupid's bow, Thick vermilion border, Spina bifida OMIM:619480
Loeys-Dietz Syndrome 2
Cleft palate, Malar flattening, Retrognathia, Micrognathia, Eosinophilic infiltration of the esop... OMIM:610168
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Optic nerve hypoplasia, Short neck, Spina bifida occulta, Ventricu... ORPHA:508488
Pallister-Hall Syndrome
Anal atresia, Accessory oral frenulum, Microretrognathia, Cleft palate, Bifid uvula, Arrhinenceph... ORPHA:672
Digeorge Syndrome
High palate, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Bifid uvula, Recurr... OMIM:188400
Craniofacial Microsomia
Sensorineural hearing impairment, Conductive hearing impairment, Unilateral external ear deformit... OMIM:164210
Pallister-Killian Syndrome
Wide mouth, Cleft palate, Delayed eruption of teeth, Tented upper lip vermilion, Anteriorly place... OMIM:601803
Wiedemann-Rautenstrauch Syndrome
Premature loss of teeth, Narrow mouth, Hypodontia, Malar flattening, Retrognathia, Abnormality of... ORPHA:3455
Microphthalmia, Syndromic 6
High palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Microglossia OMIM:607932
Witteveen-Kolk Syndrome
Sensorineural hearing impairment, Uplifted earlobe, Protruding ear, Branchial fistula, Cupped 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