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Genes Phenotypes Help, News, Blog

Gene: Scaf11 MGI:1919443

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Gene Summary

Name:
SR-related CTD-associated factor 11
Synonyms:
Sfrs2ip,  1110061H03Rik,  SIP1,  Srsf2ip,  CASP11,  2610510E10Rik,  SRRP129

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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
abnormal bone structure Scaf11em1(IMPC)Wtsi HOM Early adult 9.65×10-08
vertebral transformation Scaf11em1(IMPC)Wtsi HOM Early adult 7.17×10-05
decreased bone mineral content Scaf11em1(IMPC)Wtsi HOM Early adult 1.08×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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

14 Images

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Anti-nuclear antibody assay

Images

5 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Scaf11em1(IMPC)Wtsi
HOM, Female, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Female, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Female, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Female, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Female, WTSI

View all 70 images

Scaf11em1(IMPC)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
abnormal coat/hair pigmentation, HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
hindlimb, HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
abnormal digit morphology, HOM, Male, WTSI
Scaf11em1(IMPC)Wtsi
fused cornea and lens, HOM, Female, WTSI

Human diseases caused by Scaf11 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 Scaf11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950

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 Scaf11

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 Scaf11.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Scaf11em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Scaf11em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Scaf11em1Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Scaf11em1Wtsi PMC6459510

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
Scaf11em1(IMPC)Wtsi Deletion Mice
Scaf11tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scaf11tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Scaf11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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