- no phenotypic analysis / MGI
STOCK Fras1tm1.1Pjsc/H
Status | Available to order |
EMMA ID | EM:06767 |
International strain name | STOCK Fras1tm1.1Pjsc/H |
Alternative name | Fras1 Conditional |
Strain type | Targeted Mutant Strains : Conditional mutation |
Allele/Transgene symbol | Fras1tm1.1Pjsc, |
Gene/Transgene symbol | Fras1 |
Information from provider
Provider | Peter Scambler |
Provider affiliation | Molecular Medicine Unit, Institute Of child Health |
Genetic information | Conditional allele of Fras1 with exon 2 flanked by LoxP sites. |
Phenotypic information | No phenotype as homozygous floxed allele; recapitulates constitutive null with ubiquitous Cre driver. The conditional knock-out mice, when crossed with an ubiquitous cre-driving line, recapitulate the phenotype of blebbed mutant (nonsense mutation in Fras1 gene) and constitute a good model of human Fraser syndrome (skin lesions, kidney and upper airway malformations associated with high neomortality). The blebbed mutant is also archived - see EM:02533. |
Breeding history | The targeting vector was electroporated into C57BL/6 mouse ES cells and a clone was used to inject C57BL/6 blastocysts to generate chimeras. Backcrossing to C57BL/6Crl mice produced heterozygous F1 offspring with germline transmission of Fras1flneo. The retained Neo cassette flanked by Frt sites was excised by crossing heterozygous Fras1flneo mice with B6;SJL-Tg(ACTFLPe)9205Dym/J mice. The FLPe transgene was then removed by backcrossing to C57BL/6Crl and mice intercrossed to produce homozygotes. These mice have been backcrossed to C57BL/6Crl three times. |
References |
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Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | not known |
Immunocompromised | not known |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous 0 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Renal agenesis, unilateral / Orphanet_93100
- Fraser syndrome / Orphanet_2052
MGI phenotypes (allele matching)
Literature references
- Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.;Pitera Jolanta E, Turmaine Mark, Woolf Adrian S, Scambler Peter J, ;2012;Genesis (New York, N.Y. : 2000);50;892-8; 22730198
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