C57BL/6NTac-Snap29tm1a(EUCOMM)Wtsi/WtsiCnbc
Status | Available to order |
EMMA ID | EM:05226 |
International strain name | C57BL/6NTac-Snap29tm1a(EUCOMM)Wtsi/WtsiCnbc |
Alternative name | EPD0065_4_B10 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Snap29tm1a(EUCOMM)Wtsi |
Gene/Transgene symbol | Snap29 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | Wellcome Trust Sanger Institute |
Provider affiliation | Wellcome Trust Sanger Institute |
Genetic information | This mouse line originates from EUCOMM ES clone EPD0065_4_B10. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References |
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Information from EMMA
Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- CEDNIK syndrome / Orphanet_66631
IMPC phenotypes (allele matching)
MGI phenotypes (gene matching)
- increased bone mineral density / MGI
- scaly skin / MGI
- tight skin / MGI
- hyperkeratosis / MGI
- increased body weight / MGI
- acanthosis / MGI
- increased lean body mass / MGI
- abnormal skin physiology / MGI
- abnormal autophagy / MGI
- abnormal epidermal lamellar body morphology / MGI
- decreased birth body size / MGI
- abnormal skin appearance / MGI
- increased bone mineral content / MGI
- abnormal endoplasmic reticulum physiology / MGI
- increased endoplasmic reticulum stress / MGI
Literature references
- Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
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