Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
synaptic vesicle glycoprotein 2 a
Synonyms:
N/A

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 Sv2a 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 Sv2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Seizure, Intrauterine growth retardation OMIM:614023
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Death in infancy, Seizure OMIM:300067
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Bilateral tonic-clonic seizure, Short stature OMIM:608278
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation OMIM:301021
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Seizure OMIM:309545
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Seizure OMIM:615918
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Boomerang Dysplasia
Neonatal death, Severe short stature OMIM:112310
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822

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 Sv2a

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 Sv2a.

No publications found that use IMPC mice or data for Sv2a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sv2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sv2atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sv2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sv2aem1(IMPC)H Exon Deletion Mice

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