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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect 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
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal cranial nerve morphology, Ventricular septal defect ORPHA:2345
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Schisis Association
Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Intrauterine growth retard... OMIM:612938
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Amish Lethal Microcephaly
Microcephaly, Spina bifida, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Short stature ORPHA:1327
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Atrial septal defect, Oligohydramnios, Ventricular... ORPHA:99776
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Intrauterine growth re... OMIM:611134
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta, Facial edema ORPHA:3219
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Meningocele, Hydranencephaly, Cerebral calcification, Intrauter... ORPHA:1393
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Intrauterine growth retardation OMIM:603194
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon ORPHA:894
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia OMIM:104350
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Patent... OMIM:256520
Iniencephaly
Polyhydramnios, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myel... ORPHA:63259
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short stature, Neonatal shor... ORPHA:2839
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardati... ORPHA:3412
Trisomy 18
Spina bifida, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Holoprosencephaly... ORPHA:3380
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Postnatal growth retardation, Aortic valve stenosis, Abnormal cardiac v... ORPHA:2306
Pagod Syndrome
Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart, Short stature, Optic a... ORPHA:991
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Postnatal... ORPHA:96191
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Abnormal car... ORPHA:2092
Trisomy 20P
Spina bifida, Abnormal autonomic nervous system physiology, Umbilical hernia ORPHA:261318
Fanconi Anemia
Spina bifida, Atrial septal defect, Oligohydramnios, Growth delay, Abnormal aortic valve morpholo... ORPHA:84
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Polymicrogyria, Abnormal cortical gyration, M... ORPHA:2671
22Q11.2 Deletion Syndrome
Polyhydramnios, Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Ventri... ORPHA:567
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Ventricular septal defect, Abnormality of the optic disc, Perim... ORPHA:508498
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Edema of the dorsum of hands, Ventricular septal defect, Shor... OMIM:274000
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Do... ORPHA:2255
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Postnatal growth retardation, ... OMIM:192350
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Jacobsen Syndrome
Spina bifida, Ventricular septal defect, Growth delay, Aortic valve stenosis, Hypoplastic left he... ORPHA:2308
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Polymicrogyria, Dilated third ventricle, Micro... OMIM:304050
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Postnat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Postnat... ORPHA:363958
Neurofibromatosis, Type I
Short stature, Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Alobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Abnormality of the au... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Abnormality of the au... ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Abnormality of the au... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Abnormality of the au... ORPHA:220386
Schinzel-Giedion Syndrome
Umbilical hernia, Aganglionic megacolon, Abnormal heart morphology, Neural tube defect ORPHA:798
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology ORPHA:322
Split Cord Malformation
Cervical spina bifida, Hydromyelia, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocep... 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.

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

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