banner
Genes Phenotypes Help, News, Blog

Gene: Numb MGI:107423

Log in to follow
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
Spina bifida, Spinal dysraphism 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
Encephalocele, Hydrocephalus, 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
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele ORPHA:261102
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wildervanck Syndrome
Meningocele, Facial palsy, Pseudopapilledema ORPHA:3456
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal cranial nerve morphology ORPHA:2345
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Humero-Radial Synostosis
Meningocele ORPHA:3265
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly... ORPHA:3376
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occ... ORPHA:2311
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Optic atrophy, Growth delay OMIM:614424
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... ORPHA:99776
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Hydrocephalus, Meningocele, Pate... OMIM:130720
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fountain Syndrome
Facial edema, Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... ORPHA:1393
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema OMIM:616038
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Amish Lethal Microcephaly
Optic atrophy, Spina bifida ORPHA:99742
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencep... ORPHA:63259
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... ORPHA:3380
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh... OMIM:256520
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Optic atrophy, H... ORPHA:991
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios OMIM:613776
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni... OMIM:616546
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum ORPHA:1827
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Trisomy 20P
Umbilical hernia, Abnormal autonomic nervous system physiology, Spina bifida ORPHA:261318
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Aganglionic megacol... ORPHA:567
Fanconi Anemia
Aganglionic megacolon, Short stature, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Grow... ORPHA:84
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Facial palsy,... ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular canal defect, Spina bifida OMIM:619480
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ... OMIM:274000
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis ORPHA:2879
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Spina bifida ORPHA:2671
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum OMIM:601707
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... ORPHA:2308
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart, Short stature OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Hallermann-Streiff Syndrome
Proportionate short stature, Optic disc coloboma, Spina bifida OMIM:234100
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363958
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Knobloch Syndrome 1
Occipital encephalocele, Optic disc pallor, Patent ductus arteriosus, Peripapillary atrophy, Occi... OMIM:267750
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Polyhydramnios, Postnatal growth retardat... OMIM:180849
Campomelic Dysplasia
Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Dispro... OMIM:114290
Aicardi Syndrome
Postnatal growth retardation, Optic disc coloboma, Optic atrophy, Spina bifida OMIM:304050
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93924
Arima Syndrome
Growth delay, Occipital meningocele, Optic atrophy OMIM:243910
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... OMIM:304120
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature 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.

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter