banner
Genes Phenotypes Help, News, Blog

Gene: Shb MGI:98294

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:
src homology 2 domain-containing transforming protein B
Synonyms:
N/A

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 Shb 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 Shb 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
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly OMIM:603194
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Spina bifida ORPHA:1120
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta ORPHA:2311
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida ORPHA:1393
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Pagod Syndrome
Encephalocele, Sudden cardiac death, Spina bifida, Meningocele, Arrhythmia ORPHA:991
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia OMIM:234100
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Trisomy 18
Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Focal Dermal Hypoplasia
Umbilical hernia, Telangiectasia of the skin, Spina bifida ORPHA:2092
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Nail-Patella Syndrome
Spina bifida OMIM:161200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Neurofibromatosis, Type I
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida OMIM:162200
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele... ORPHA:567
Lathosterolosis
Meningocele ORPHA:46059
Fibular Hemimelia
Spina bifida ORPHA:93323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis ORPHA:363958
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Spina bifida ORPHA:508498
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Jacobsen Syndrome
Aortic valve stenosis, Spina bifida ORPHA:2308
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Fanconi Anemia
Hypertrophic cardiomyopathy, Umbilical hernia, Hydrocephalus, Spina bifida ORPHA:84
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly OMIM:256520
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Thrombocytopenia-Absent Radius Syndrome
Spina bifida OMIM:274000
Arima Syndrome
Occipital meningocele, Hypertension OMIM:243910
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Aicardi Syndrome
Spina bifida OMIM:304050
Marfan Syndrome
Congestive heart failure, Meningocele ORPHA:558
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus OMIM:192350
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
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 Shb

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 Shb.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Cdh5-CreERT2 transgene causes conditional Shb gene deletion in hematopoietic cells with consequences for immune cell responses to tumors. Scientific reports (May 2019) Shbtm1a(EUCOMM)Hmgu Shbtm1b(EUCOMM)Hmgu PMC6525206

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
Shbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Shbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele 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