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

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

Order

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.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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