IMPC phenotypes (allele matching)
C57BL/6N-Nadk2tm1b(EUCOMM)Wtsi/WtsiH
| Status | Available to order |
| EMMA ID | EM:14402 |
| International strain name | C57BL/6N-Nadk2tm1b(EUCOMM)Wtsi/WtsiH |
| Alternative name | EPD0638_1_A06 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Nadk2tm1b(EUCOMM)Wtsi |
| Gene/Transgene symbol | Nadk2 |
| 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 EPD0638_1_A06. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on EUCOMM final vectors. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
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
- Progressive encephalopathy with leukodystrophy due to DECR deficiency / Orphanet_431361
IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
- abnormal coat/hair pigmentation / IMPC
- decreased fasting circulating glucose level / IMPC
- persistence of hyaloid vascular system / IMPC
- embryonic lethality prior to tooth bud stage / IMPC
- abnormal embryo turning / IMPC
- increased mean corpuscular hemoglobin concentration / IMPC
MGI phenotypes (gene matching)
- enlarged liver / MGI
- pale liver / MGI
- abnormal liver physiology / MGI
- increased circulating triglyceride level / MGI
- increased circulating free fatty acid level / MGI
- hepatic steatosis / MGI
- liver degeneration / MGI
- liver fibrosis / MGI
- oxidative stress / MGI
- increased circulating carnitine level / MGI
- decreased energy expenditure / MGI
- increased liver triglyceride level / MGI
- increased respiratory quotient / MGI
- decreased fatty acid oxidation / MGI
- increased circulating lysine level / MGI
- increased lysine level / MGI