MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
STOCK Fras1tm1.1Pjsc/H
| Status | Available to order |
| EMMA ID | EM:06767 |
| Citation information | RRID:IMSR_EM:06767 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 | 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 |
|
| 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 males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Renal agenesis, unilateral / Orphanet_93100
- Fraser syndrome / Orphanet_2052
MGI phenotypes (gene matching)
- abnormal rib morphology / MGI
- abnormal sternum morphology / MGI
- absent kidney / MGI
- cortical renal glomerulopathies / MGI
- abnormal kidney development / MGI
- delayed kidney development / MGI
- syndactyly / MGI
- clubfoot / MGI
- abnormal lung morphology / MGI
- abnormal lung development / MGI
- blistering / MGI
- microphthalmia / MGI
- eyelids open at birth / MGI
- hemorrhage / MGI
- abnormal hair growth / MGI
- abnormal eye morphology / MGI
- abnormal digit morphology / MGI
- micrognathia / MGI
- small kidney / MGI
- no phenotypic analysis / MGI
- single kidney / MGI
- kidney cysts / MGI
- abnormal lung vasculature morphology / MGI
- abnormal basement membrane morphology / MGI
- abnormal sternebra morphology / MGI
- impaired branching involved in ureteric bud morphogenesis / MGI
- cryptophthalmos / MGI
- glomerulosclerosis / MGI
- narrow eye opening / MGI
- abnormal renal glomerulus morphology / MGI
- renal/urinary system phenotype / MGI
- craniofacial phenotype / MGI
- abnormal ureteric bud morphology / MGI
- abnormal lung epithelium morphology / MGI
- bleb / MGI
- fetal bleb / MGI
- abnormal secondary palate development / MGI
- preaxial polydactyly / MGI
- abnormal palatal shelf fusion at midline / MGI
- cleft secondary palate / MGI
- perimembraneous ventricular septal defect / MGI
- integument phenotype / MGI
- fused right lung lobes / MGI
- abnormal metanephric mesenchyme morphology / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- abnormal glomerular capillary morphology / MGI
- abnormal glomerular mesangium morphology / MGI
- abnormal metanephros morphology / MGI
- increased metanephric mesenchyme apoptosis / MGI
- abnormal glomerular capsule space morphology / MGI
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