- abnormal kidney morphology / IMPC
- abnormal placenta vasculature / IMPC
- abnormal blood vessel morphology / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal placenta morphology / IMPC
- small kidney / IMPC
- edema / IMPC
- persistence of hyaloid vascular system / IMPC
- abnormal retina vasculature morphology / IMPC
- embryonic growth retardation / IMPC
- enlarged kidney / IMPC
- enlarged spleen / IMPC
- enlarged testis / IMPC
- abnormal skin morphology / IMPC
- enlarged heart / IMPC
- abnormal spleen morphology / IMPC
- abnormal retina blood vessel morphology / IMPC
- abnormal heart morphology / IMPC
- abnormal testis morphology / IMPC
- abnormal liver morphology / IMPC
- small liver / IMPC
C57BL/6N-Fahtm1(NCOM)Mfgc/Biat
Status | Available to order |
EMMA ID | EM:10787 |
Citation information | RRID:IMSR_EM:10787 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/6N-Fahtm1(NCOM)Mfgc/Biat |
Alternative name | C57BL/6N-Fah |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Fahtm1(NCOM)Mfgc |
Gene/Transgene symbol | Fah |
Information from provider
Provider | Thomas Ruelicke |
Provider affiliation | Department 1 (Biomedical Sciences), University of Veterinary Medicine, Vienna |
Genetic information | The insertion of NorCOMM cassette pGOHANU created a deletion of size 4292bp between positions 91751587-91747295 of Chromosome 7 (Genome Build NCBIM37). This deletion results in the removal of functionally critical exon(s). The cassette is composed of an F3 site followed by a universal inverse PCR primer site, splice acceptor IRES-lacZ sequence and a loxP site. This first loxP site is followed by deltaTK and neomycin under the control of the human beta-actin promoter / deltaTK / neomycin phosphotransferase (neoR) gene / SV40 polyA and a second loxP site. After the second loxP site is a PhiC31 attP site and a puromycin sequence that is not active unless a promoter is inserted by PhiC31 at the attP site. The cassette is finished with an FRT site. Variations of this allele can be made using PhiC31 docking and subsequent cloning (Nagy et al., 2009. Methods Mol. Biol. 530:365-78). (MGI reference ID J:165964) |
Phenotypic information | Homozygous:Fah-/- animals die shortly after birth. Homozygous animals are viable when receiving a medication.Heterozygous:normal |
Breeding history | Exclusive with C57BL/6NTac. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | University of Veterinary Medicine, Vienna, Austria |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Fanconi anemia / Orphanet_84
- Tyrosinemia type 1 / Orphanet_882
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- hypoglycemia / MGI
- abnormal circulating aspartate transaminase level / MGI
- pale liver / MGI
- abnormal hepatocyte morphology / MGI
- abnormal liver physiology / MGI
- jaundice / MGI
- weight loss / MGI
- abnormal sleep pattern / MGI
- kidney inflammation / MGI
- liver inflammation / MGI
- abnormal liver regeneration / MGI
- dilated renal tubules / MGI
- enlarged kidney / MGI
- aminoaciduria / MGI
- increased liver adenoma incidence / MGI
- liver failure / MGI
- increased hepatocellular carcinoma incidence / MGI
- decreased hepatocyte proliferation / MGI
- pale kidney / MGI
- increased susceptibility to injury / MGI
- abnormal circulating amino acid level / MGI
- abnormal amino acid level / MGI
- increased circulating aspartate transaminase level / MGI
- increased circulating bilirubin level / MGI
- liver/biliary system phenotype / MGI
- decreased liver regeneration / MGI
- increased circulating creatinine level / MGI
- increased liver tumor incidence / MGI
- decreased hepatocyte apoptosis / MGI
- abnormal liver lobule morphology / MGI
- pancreas hyperplasia / MGI
- increased pancreatic alpha cell number / MGI
- kidney degeneration / MGI
- abnormal urine homeostasis / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- abnormal hepatocyte physiology / MGI
- increased hepatoma incidence / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- increased alpha-fetoprotein level / MGI
- increased circulating tyrosine level / MGI
Literature references
- A versatile transposon-based technology to generate loss- and gain-of-function phenotypes in the mouse liver.;Kopasz Anna Georgina, Pusztai Dávid Zsolt, Karkas Réka, Hudoba Liza, Abdullah Khaldoon Sadiq Ahmed, Imre Gergely, Pankotai-Bodó Gabriella, Migh Ede, Nagy Andrea, Kriston András, Germán Péter, Drubi Andrea Bakné, Molnár Anna, Fekete Ildikó, Dani Virág Éva, Ocsovszki Imre, Puskás László Géza, Horváth Péter, Sükösd Farkas, Mátés Lajos, ;2022;BMC biology;20;74; 35361222
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