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

IMPC Data Collections

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

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.

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
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
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
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left hear... OMIM:618164
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele ORPHA:261102
Nevus Comedonicus Syndrome
Spina bifida occulta, Microcephaly, Spina bifida ORPHA:64754
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal cranial nerve morphology, Ventricular septal defect ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Spina bifida, B... ORPHA:1120
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Tetralogy of Fallot with abs... OMIM:239711
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricul... OMIM:612938
Amish Lethal Microcephaly
Microcephaly, Lissencephaly, Spina bifida, Agenesis of corpus callosum ORPHA:99742
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Spina bifida, Intrauterine growth retardation ORPHA:1327
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Cervical spina bifida, Growth delay OMIM:600122
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Patent ductus arteriosus, Endoc... ORPHA:99776
Czeizel-Losonci Syndrome
Myelomeningocele, Dextrocardia, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Fountain Syndrome
Short stature, Spina bifida, Spina bifida occulta, Facial edema ORPHA:3219
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Hy... ORPHA:79321
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cerebrocostomandibular Syndrome
Myelomeningocele, Intrauterine growth retardation, Hydranencephaly, Short stature, Spina bifida, ... ORPHA:1393
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Aganglionic megacolon ORPHA:894
Iniencephaly
Myelomeningocele, Anencephaly, Spinal dysraphism, Lissencephaly, Spina bifida, Hydrocephalus, Hol... ORPHA:63259
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Ectopia cordis, Anencephaly, Transposition of the great ... OMIM:313850
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Patent foramen ovale, Patent ductus arteri... OMIM:256520
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Mitral valve prolapse, Patent ductus arteriosus, Hydrocephalus OMIM:104350
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Mesomelic/rhizomelic limb shortening, Spina bifida, Hydrocephalus... ORPHA:2839
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Ectopia cordis, Atrial septal defect, Anencephaly, Abnorm... ORPHA:2369
Trisomy 18
Intrauterine growth retardation, Atrial septal defect, Anencephaly, Growth delay, Short stature, ... ORPHA:3380
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Polyhydramnios, Hydrocephalus, Aqueductal stenosis... ORPHA:3412
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart, Short stature, Spina bifida, Meningocele, Optic a... ORPHA:991
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Cardiac Diverticulum
Tetralogy of Fallot, Aortic valve stenosis, Patent foramen ovale, Tricuspid atresia, Patent ductu... ORPHA:1686
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Ventricular septal defect, Umbilical hernia, Abnormal car... ORPHA:2092
Trisomy 20P
Umbilical hernia, Spina bifida, Abnormal autonomic nervous system physiology ORPHA:261318
Fanconi Anemia
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal def... ORPHA:84
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Truncus arteriosus, Tetralogy of Fallot, Occipital myelomeni... ORPHA:567
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Intrauterine growth retardation, Microcephaly... ORPHA:2671
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Tetralogy of Fallot, Optic nerve hypoplasia, Facial palsy, Short stature, Spi... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Tetralogy of Fallot, Atrial septal defect, Edema of the dorsum of feet, Short statu... OMIM:274000
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Unilateral facial palsy, Patent ductus arteriosus, Atrioventricular canal defect OMIM:619480
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Vater/Vacterl Association
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Occipital encepha... OMIM:192350
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Double outlet left ve... OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Double outlet left ve... ORPHA:2255
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Jacobsen Syndrome
Intrauterine growth retardation, Growth delay, Hypoplastic left heart, Short stature, Spina bifid... ORPHA:2308
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Partial agenesis of the corpus ca... OMIM:304050
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Hallermann-Streiff Syndrome
Proportionate short stature, Optic disc coloboma, Spina bifida OMIM:234100
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Abnormal heart morphology, Spina bifida, Po... OMIM:114290
Koolen-De Vries Syndrome Due To A Point Mutation
Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bifida, Cardiomyopathy,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bifida, Cardiomyopathy,... ORPHA:363958
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Growth delay, Neural tube defect, Abnormal heart mor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Growth delay, Neural tube defect, Abnormal heart mor... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Growth delay, Neural tube defect, Abnormal heart mor... ORPHA:93924
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Growth delay, Neural tube defect, Abnormal heart mor... ORPHA:220386
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial se... OMIM:619702
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Myelomeningocele, Cervical spina bifida, Lipomyelomeningocele, Hydrocephalus, Hydromyelia, Mening... ORPHA:573278

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.

This service may be affected by the Covid-19 pandemic. See how

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