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Gene: Sh3gl2 MGI:700009

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Gene Summary

Name:
SH3-domain GRB2-like 2
Synonyms:
EEN-B1,  endophilin A1,  endophilin I,  B930049H17Rik,  EEN1,  9530001L19Rik,  Sh3d2a

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 3.83×10-07
decreased bone mineral density Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 1.35×10-11
decreased grip strength Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 8.28×10-07
increased circulating aspartate transaminase level Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 1.74×10-17
decreased exploration in new environment Sh3gl2tm1b(EUCOMM)Wtsi HOM   Early adult 4.33×10-07
increased circulating alanine transaminase level Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 6.86×10-07
preweaning lethality, incomplete penetrance Sh3gl2tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Sh3gl2 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 Sh3gl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520

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 Sh3gl2

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 Sh3gl2.

No publications found that use IMPC mice or data for Sh3gl2.

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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
Sh3gl2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sh3gl2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sh3gl2tm45700(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sh3gl2tm438(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sh3gl2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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