STOCK Fras1tm1Chpk/PgrKieg

Status

Available to order

EMMA IDEM:00072
International strain nameSTOCK Fras1tm1Chpk/PgrKieg
Alternative nameFras-1, Fras-1 KO, CD1;129/SvR1-Fras1tmGC-103
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolFras1tm1Chpk
Gene/Transgene symbolFras1

Information from provider

ProviderPeter Gruss
Provider affiliationMax Planck Inst. Biophysical Chemistry
Genetic informationFras1 has been inactivated by homologous recombination in R1 mouse embryonic stem cells, by inserting a targeting construct into the Fras1 locus in a sequence corresponding to amino acid 162, at the MscI restriction site after the first 16 bp of exon 6 (Vrontou et al., 2003). Genomic DNA was isolated from a mouse 129/Ola genomic library constructed in the lGEMTM-12 vector. In the targeting construct, an expression cassette (pGNA-vector, Mouellic et al., 1990) containing the beta-galactosidase gene fused in-frame to Fras1-coding sequence, and the RSV promoter which controls the expression of the neomycin gene was flanked by 2.6 kb upstream and 10.3 kb downstream Fras1 genomic sequences.
Phenotypic informationThe phenotype has been investigated on both the C57BL/10 and NMRI background in the F5 generation. Homozygous embryos on the C57BL/10 background have large subepidermal blisters predominantly formed in the head region around the eyes and at the distal part of the limbs. This phenotype occurs at approximately E12.0, and, as development proceeds, blisters that are initially transparent, gradually become hemorrhagic, and finally, homozygous embryos die between E14.5 and E16.5. Fras1 mutants on the NMRI background display an identical, although occasionally slightly milder phenotype that allows some embryos to develop to term, half of which survive to adulthood and are fertile. The external phenotypic features of the living homozygous include the permanent fusion of one or both eyelids and of some or all digits. Fras1 mutants in both backgrounds are further characterized by unilateral or bilateral renal agenesis and/or dysgenesis and hypoplasia.
References
  • Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.;Vrontou Sophia, Petrou Petros, Meyer Barbara I, Galanopoulos Vassilis K, Imai Kenji, Yanagi Masayuki, Chowdhury Kamal, Scambler Peter J, Chalepakis Georges, ;2003;Nature genetics;34;209-14; 12766770

Information from EMMA

Archiving centreKarolinska Institutet, Stockholm, Sweden

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal lung morphology / MGI
  • abnormal lung development / MGI
  • abnormal lung vasculature morphology / MGI
  • abnormal basement membrane morphology / MGI
  • abnormal lung epithelium morphology / MGI
  • fused right lung lobes / MGI
  • absent kidney / MGI
  • syndactyly / MGI
  • blistering / MGI
  • cryptophthalmos / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
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

  • Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.;Vrontou Sophia, Petrou Petros, Meyer Barbara I, Galanopoulos Vassilis K, Imai Kenji, Yanagi Masayuki, Chowdhury Kamal, Scambler Peter J, Chalepakis Georges, ;2003;Nature genetics;34;209-14; 12766770

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

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Practical information

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