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Gene: Samhd1 MGI:1927468

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SAM domain and HD domain, 1
Synonyms:
E330031J07Rik

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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 Samhd1 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.

The table below shows human diseases associated to Samhd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aicardi-Goutières Syndrome
ORPHA:51
Chilblain Lupus 2
OMIM:614415
Aicardi-Goutieres Syndrome 5
OMIM:612952

The table below shows human diseases predicted to be associated to Samhd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Aicardi-Goutières Syndrome
ORPHA:51
Chilblain Lupus 2
OMIM:614415
Aicardi-Goutieres Syndrome 5
OMIM:612952

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 Samhd1

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 Samhd1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Vectored immunoprophylaxis and treatment of SARS-CoV-2 infection in a preclinical model. Proceedings of the National Academy of Sciences of the United States of America (May 2023) Samhd1tm1d(EUCOMM)Wtsi PMC10266030
Single-epitope T cell-based vaccine protects against SARS-CoV-2 infection in a preclinical animal model. JCI insight (April 2023) Samhd1tm1d(EUCOMM)Wtsi PMC10132166
SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide. Journal of immunology (Baltimore, Md. : 1950) (December 2021) Samhd1tm1d(EUCOMM)Wtsi 34893529
A viral kinase counteracts in vivo restriction of murine cytomegalovirus by SAMHD1. Nature microbiology (September 2019) Samhd1tm1d(EUCOMM)Wtsi 31548683
SAMHD1 suppresses innate immune responses to viral infections and inflammatory stimuli by inhibiting the NF-κB and interferon pathways. Proceedings of the National Academy of Sciences of the United States of America (April 2018) Samhd1tm1d(EUCOMM)Wtsi 29610295
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. Cell reports (August 2013) Samhd1tm1c(EUCOMM)Wtsi Samhd1tm1a(EUCOMM)Wtsi Samhd1tm1d(EUCOMM)Wtsi PMC4807655

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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
Samhd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Samhd1em1(IMPC)Ccpcz Exon Deletion Mice
Samhd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Samhd1tm39509(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Samhd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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