IMPC phenotypes (gene matching)
C57BL/6NTac-Ftoem1H/H
| Status | Available to order |
| EMMA ID | EM:15948 |
| Citation information | RRID:IMSR_EM:15948 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6NTac-Ftoem1H/H |
| Alternative name | C57BL/6NTac-Fto |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Ftoem1H |
| Gene/Transgene symbol | Fto |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This strain carries a Crispr generated mutation at the Fto locus. the aim was to generated a mutation that models the human variant rs1421085, a cis regulatory module in adenocyte progenitors and highly conserved ARID 5B TFBS Motif (DNA Binding domain). It is involved in chromatin remodeling, and regulation of gene expression during cell growth, differentiation, and development. |
| Phenotypic information | Deletion of the variant in mouse models brought about a significant reduction in body weight and fat massn only for mice with a high fat diet. No significant difference for mice under low fat diet conditions suggesting a conditional effect of the deletion. |
| Breeding history | Generated and maintained on C57BL/6NTac |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Lethal polymalformative syndrome, Boissel type / Orphanet_210144
MGI phenotypes (gene matching)
- decreased bone mineral density / MGI
- decreased circulating LDL cholesterol level / MGI
- dermatitis / MGI
- decreased body length / MGI
- decreased body weight / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- abnormal eating behavior / MGI
- polyphagia / MGI
- increased circulating triglyceride level / MGI
- increased circulating HDL cholesterol level / MGI
- postnatal growth retardation / MGI
- increased circulating glucagon level / MGI
- decreased circulating insulin level / MGI
- decreased circulating alanine transaminase level / MGI
- increased lean body mass / MGI
- decreased lean body mass / MGI
- decreased circulating iron level / MGI
- decreased circulating insulin-like growth factor I level / MGI
- increased energy expenditure / MGI
- cachexia / MGI
- increased circulating cholesterol level / MGI
- abnormal metabolism / MGI
- abnormal oxygen consumption / MGI
- increased oxygen consumption / MGI
- improved glucose tolerance / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- abnormal circulating hormone level / MGI
- decreased percent body fat/body weight / MGI
- increased circulating glucose level / MGI
- decreased lactate dehydrogenase level / MGI
- decreased circulating aspartate transaminase level / MGI
- increased susceptibility to diet-induced obesity / MGI
- decreased susceptibility to diet-induced obesity / MGI
- increased circulating adrenaline level / MGI
- decreased circulating leptin level / MGI
- increased circulating leptin level / MGI
- abnormal carbon dioxide production / MGI
- increased carbon dioxide production / MGI
- decreased carbon dioxide production / MGI
- increased basal metabolism / MGI
- decreased white fat cell size / MGI
- decreased gonadal fat pad weight / MGI
- increased total body fat amount / MGI
- decreased total body fat amount / MGI
- increased respiratory quotient / MGI
- decreased respiratory quotient / MGI
- postnatal lethality, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- abnormal urine catecholamine level / MGI
- increased food intake / MGI
Literature references
- Linking the FTO obesity rs1421085 variant circuitry to cellular, metabolic, and organismal phenotypes in vivo.;Laber Samantha, Forcisi Sara, Bentley Liz, Petzold Julia, Moritz Franco, Smirnov Kirill S, Al Sadat Loubna, Williamson Iain, Strobel Sophie, Agnew Thomas, Sengupta Shahana, Nicol Tom, Grallert Harald, Heier Margit, Honecker Julius, Mianne Joffrey, Teboul Lydia, Dumbell Rebecca, Long Helen, Simon Michelle, Lindgren Cecilia, Bickmore Wendy A, Hauner Hans, Schmitt-Kopplin Philippe, Claussnitzer Melina, Cox Roger D, ;2021;Science advances;7;; 34290091