- increased bone mineral density / IMPC
- decreased circulating LDL cholesterol level / IMPC
- decreased circulating HDL cholesterol level / IMPC
- abnormal head morphology / IMPC
- decreased body weight / IMPC
- increased circulating alkaline phosphatase level / IMPC
- decreased circulating cholesterol level / IMPC
- decreased circulating serum albumin level / IMPC
- increased circulating amylase level / IMPC
- decreased total body fat amount / IMPC
- preweaning lethality, incomplete penetrance / IMPC
B6Brd;B6N-Tyrc-Brd Akap9tm1a(KOMP)Wtsi/WtsiOrl
Status | Available to order |
EMMA ID | EM:15217 |
International strain name | B6Brd;B6N-Tyrc-Brd Akap9tm1a(KOMP)Wtsi/WtsiOrl |
Alternative name | EPD0033_5_D02 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Akap9tm1a(KOMP)Wtsi |
Gene/Transgene symbol | Akap9 |
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 KOMP ES clone EPD0033_5_D02. 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 | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Romano-Ward syndrome / Orphanet_101016
IMPC phenotypes (allele matching)
IMPC phenotypes (gene matching)
- decreased circulating cholesterol level / IMPC
- decreased circulating HDL cholesterol level / IMPC
- decreased circulating LDL cholesterol level / IMPC
- decreased body weight / IMPC
- increased circulating alkaline phosphatase level / IMPC
- decreased circulating serum albumin level / IMPC
- decreased total body fat amount / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- increased circulating amylase level / IMPC
- increased bone mineral density / IMPC
- abnormal head morphology / IMPC
MGI phenotypes (allele matching)
- decreased circulating LDL cholesterol level / MGI
- decreased circulating HDL cholesterol level / MGI
- decreased body weight / MGI
- abnormal tooth morphology / MGI
- increased circulating alkaline phosphatase level / MGI
- decreased lean body mass / MGI
- abnormal pelvic girdle bone morphology / MGI
- increased energy expenditure / MGI
- increased T cell number / MGI
- decreased B cell number / MGI
- decreased circulating cholesterol level / MGI
- increased oxygen consumption / MGI
- decreased circulating serum albumin level / MGI
- decreased percent body fat/body weight / MGI
- decreased circulating glucose level / MGI
- decreased circulating total protein level / MGI
- increased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased mature B cell number / MGI
- increased carbon dioxide production / MGI
- decreased total body fat amount / MGI
- lethality, incomplete penetrance / MGI
- decreased circulating calcium level / MGI
- abnormal head morphology / MGI
- increased circulating fructosamine level / MGI
- decreased circulating fructosamine level / MGI
- decreased lumbar vertebrae number / MGI
MGI phenotypes (gene matching)
- decreased circulating LDL cholesterol level / MGI
- decreased circulating HDL cholesterol level / MGI
- decreased circulating calcium level / MGI
- abnormal head morphology / MGI
- abnormal testis morphology / MGI
- arrest of spermatogenesis / MGI
- abnormal spermatogenesis / MGI
- decreased body weight / MGI
- male infertility / MGI
- abnormal tooth morphology / MGI
- abnormal seminiferous tubule morphology / MGI
- globozoospermia / MGI
- oligozoospermia / MGI
- increased circulating alkaline phosphatase level / MGI
- decreased lean body mass / MGI
- abnormal Sertoli cell development / MGI
- abnormal pelvic girdle bone morphology / MGI
- decreased lumbar vertebrae number / MGI
- decreased testis weight / MGI
- increased energy expenditure / MGI
- decreased seminal vesicle weight / MGI
- increased T cell number / MGI
- decreased B cell number / MGI
- azoospermia / MGI
- decreased circulating cholesterol level / MGI
- increased oxygen consumption / MGI
- decreased circulating serum albumin level / MGI
- decreased percent body fat/body weight / MGI
- decreased circulating glucose level / MGI
- decreased circulating total protein level / MGI
- abnormal spermatocyte morphology / MGI
- increased CD4-positive, alpha beta T cell number / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased mature B cell number / MGI
- arrest of male meiosis / MGI
- increased carbon dioxide production / MGI
- decreased total body fat amount / MGI
- increased circulating fructosamine level / MGI
- decreased circulating fructosamine level / MGI
- lethality, incomplete penetrance / 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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