Not currently registered for phenotyping at IMPC

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

Gene Summary

NUMB endocytic adaptor protein

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
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
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Adams-Oliver Syndrome 4
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Te... ORPHA:1908
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus ORPHA:261102
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Myelomeningocele, Partial agenes... ORPHA:101030
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum OMIM:207950
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Ventricular septal defect, Spina bifida ORPHA:2345
Muscle-Eye-Brain Disease
Optic atrophy, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Spina bifida, Patent ductus arte... ORPHA:1120
Wildervanck Syndrome
Meningocele, Facial palsy, Pseudopapilledema 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
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Humero-Radial Synostosis
Meningocele ORPHA:3265
Polyhydramnios, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, A... ORPHA:3376
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Myelomeningocele ORPHA:66637
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Short stature, Umbilical hernia, Intrauterine growth retardati... ORPHA:2311
Joubert Syndrome 14
Optic atrophy, Encephalocele, Meningocele, Hydrocephalus, Growth delay, Ventricular septal defect OMIM:614424
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Pat... ORPHA:99776
Sirenomelia, Spina bifida ORPHA:3169
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Short stature, Umbilical hernia, Bicuspid a... OMIM:130720
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Fountain Syndrome
Short stature, Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Neural tube defect, Cardiomyopathy ORPHA:79321
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Short stature, Intrauterine growth ... ORPHA:1393
Neu-Laxova Syndrome 2
Edema, Polyhydramnios, Intrauterine growth retardation, Spina bifida OMIM:616038
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Meningocele ORPHA:894
Amish Lethal Microcephaly
Optic atrophy, Spina bifida ORPHA:99742
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Shor... OMIM:613686
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Patent ductus ar... OMIM:313850
Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bi... ORPHA:63259
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Limb Body Wall Complex
Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... 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
Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Transposition of the great arteries, Small plac... OMIM:256520
Pagod Syndrome
Optic atrophy, Situs inversus totalis, Encephalocele, Meningocele, Spina bifida, Short stature, H... ORPHA:991
Vacterl With Hydrocephalus
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:3412
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia OMIM:613776
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Encephalocele, Meningocele ORPHA:1827
Cardiac Diverticulum
Transposition of the great arteries, Tricuspid atresia, Dextrocardia, Partial anomalous pulmonary... ORPHA:1686
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Hydrocephalus, Occipital meningocele, Atrial septal... OMIM:616546
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Umbilical hernia, Ventricular septal defect, Abnormal car... ORPHA:2092
Phakomatosis Pigmentokeratotica
Lymphedema, Spina bifida ORPHA:2874
Vater/Vacterl Association
Postnatal growth retardation, Occipital encephalocele, Transposition of the great arteries, Paten... OMIM:192350
Trisomy 20P
Abnormal autonomic nervous system physiology, Spina bifida, Umbilical hernia ORPHA:261318
Fanconi Anemia
Aganglionic megacolon, Abnormal aortic valve morphology, Hydrocephalus, Hypertrophic cardiomyopat... ORPHA:84
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Optic nerve hypoplasia, ... ORPHA:508498
22Q11.2 Deletion Syndrome
Optic atrophy, Aganglionic megacolon, Tricuspid atresia, Polyhydramnios, Abnormal aortic valve mo... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Spina bifida, Patent ductus arteriosus OMIM:619480
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Meningocele, Rhizomelic arm shortening, Abnor... ORPHA:397715
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Hydrops fetalis, Meningocele ORPHA:2879
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Spina bifida ORPHA:2671
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Edema of the dorsum of hands, Spina bifida, Short stature, Eosinop... OMIM:274000
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida OMIM:109400
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Intrauterine growth retardation, Meningocele ORPHA:46059
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Pa... 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
Spina bifida, Aortic valve stenosis, Short stature, Growth delay, Intrauterine growth retardation... ORPHA:2308
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele, Hypoplastic left heart OMIM:277170
Hallermann-Streiff Syndrome
Proportionate short stature, Optic disc coloboma, Spina bifida OMIM:234100
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Occipital meningocele, Peripapillary atrophy, Pate... OMIM:267750
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Postnatal growth retardation, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmoni... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Postnatal growth retardation, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmoni... ORPHA:363958
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Spina bifida OMIM:162200
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Perimembranous ventricular septal defect, Polyhydramnios, Spina bif... OMIM:180849
Campomelic Dysplasia
Neonatal short-limb short stature, Polyhydramnios, Disproportionate short-limb short stature, Hyd... OMIM:114290
Aicardi Syndrome
Optic atrophy, Postnatal growth retardation, Optic disc coloboma, Spina bifida OMIM:304050
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Short stature, Patent ductus ... OMIM:134780
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Short stature, Gr... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Short stature, Gr... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Short stature, Gr... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Short stature, Gr... ORPHA:93924
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Neonatal death, Oligohydramnios, Spina bifida OMIM:614437
Arima Syndrome
Optic atrophy, Occipital meningocele, Growth delay OMIM:243910
Otopalatodigital Syndrome, Type Ii
Postnatal growth retardation, Stillbirth, Hydrocephalus, Spina bifida, Short stature, Umbilical h... OMIM:304120
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Short stature, Occipital meningo... OMIM:610829
Marfan Syndrome
Meningocele, Tricuspid valve prolapse, Mitral valve prolapse, Mitral valve calcification ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820


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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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

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