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Gene: Numb MGI:107423

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NUMB endocytic adaptor protein
Synonyms:
m-numb

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Numb 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 Numb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele ORPHA:261102
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele, Partial agenes... ORPHA:101030
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Spina bifida, Ventricular septal defect ORPHA:2345
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Spina bif... ORPHA:1120
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy ORPHA:3456
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Humero-Radial Synostosis
Meningocele ORPHA:3265
Triploidy
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnio... ORPHA:3376
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningoce... ORPHA:2311
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Intrauterine growth retardation, Spina bifida ORPHA:1327
Joubert Syndrome 14
Optic atrophy, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta ORPHA:2437
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Oli... ORPHA:99776
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Short stature,... OMIM:130720
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida, Facial edema ORPHA:3219
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Neu-Laxova Syndrome 2
Polyhydramnios, Intrauterine growth retardation, Spina bifida, Edema OMIM:616038
Waardenburg Syndrome Type 1
Aganglionic megacolon, Meningocele, Spina bifida ORPHA:894
Amish Lethal Microcephaly
Optic atrophy, Spina bifida ORPHA:99742
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Short stature, Spina bifid... OMIM:613686
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar... OMIM:313850
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Poly... ORPHA:63259
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Trisomy 18
Growth delay, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Spina ... ORPHA:3380
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... OMIM:256520
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Situs inversus totalis, Encephalocele, Spina bifida, Short... ORPHA:991
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hydrocephalus, Spina bifida, Polyhydramnios, Aqueductal stenosis ORPHA:3412
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia OMIM:613776
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele, Agenesis of corpus callosum ORPHA:1827
Cardiac Diverticulum
Aortic valve stenosis, Tricuspid stenosis, Congenital defect of the pericardium, Umbilical hernia... ORPHA:1686
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Atrial septal defect, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anen... OMIM:616546
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... ORPHA:2092
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Trisomy 20P
Spina bifida, Abnormal autonomic nervous system physiology, Umbilical hernia ORPHA:261318
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
22Q11.2 Deletion Syndrome
Optic atrophy, Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal p... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Unilateral facial palsy OMIM:619480
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Abnormal optic dis... ORPHA:397715
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Disproportionate short stature, Hydrops fetalis ORPHA:2879
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Spina bifida ORPHA:2671
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular sept... OMIM:274000
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... OMIM:600001
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum OMIM:601707
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus... OMIM:610828
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Orofaciodigital Syndrome Vi
Short stature, Hypoplastic left heart, Occipital meningocele OMIM:277170
Hallermann-Streiff Syndrome
Spina bifida, Optic disc coloboma, Proportionate short stature OMIM:234100
Knobloch Syndrome 1
Occipital encephalocele, Peripapillary atrophy, Optic disc pallor, Spina bifida occulta, Occipita... OMIM:267750
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricul... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricul... ORPHA:363958
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus OMIM:162200
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Polyhydramnios, Mitral valve prolapse, Vent... OMIM:180849
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Aicardi Syndrome
Postnatal growth retardation, Optic atrophy, Spina bifida, Optic disc coloboma OMIM:304050
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Short stature, Patent... OMIM:134780
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Semilobar Holoprosencephaly
Abnormal heart morphology, Abnormality of the autonomic nervous system, Hydrocephalus, Short stat... ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Abnormality of the autonomic nervous system, Hydrocephalus, Short stat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Abnormality of the autonomic nervous system, Hydrocephalus, Short stat... ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Abnormality of the autonomic nervous system, Hydrocephalus, Short stat... ORPHA:93924
Cutis Laxa, Autosomal Recessive, Type Ib
Oligohydramnios, Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Arima Syndrome
Optic atrophy, Occipital meningocele, Growth delay OMIM:243910
Otopalatodigital Syndrome, Type Ii
Stillbirth, Umbilical hernia, Postnatal growth retardation, Spina bifida, Hydrocephalus, Atrial s... OMIM:304120
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele,... OMIM:610829
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820

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 Numb

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 Numb.

No publications found that use IMPC mice or data for Numb.

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MGI Allele Allele Type Produced
Numbtm373499(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Numbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Numbtm2(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Numbtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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