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Allele Symbol: Frem1bat Name: Fras1 related extracellular matrix protein 1 / bat Alteration at locus: Chemically Induced |
Genetic Alterations:
ENU-induced T to
C transition in the donor splice site of intron 25 (GTACT->GCACT) of the
Frem1 gene (position 85133 in the Genbank genomic region NC_000070 for
linear genomic DNA sequence of Frem1). The mutation results in skipping
of exon 25, and destroys the reading frame thereafter. Thus, 39
nucleotides from exon 26 are transcribed, encoding 12 aberrant amino
acids, followed by a premature stop codon. No splicing between exons 25
and 26 is detected.
Genotype Determination:
ES Cell Line: Not applicable
Phenotype:
Homozygous phenotype: The bat phenotype
was identified as a visible phenotype among ENU-induced G3 mice.
Homozygous bat mice display a range of defects including cryptophthalmos
(skin covering the globe of the eye), occasional hindlimb syndactyly
(fusion of fingers or toes), and renal anomalies (unilateral agenesis of
the kidney). From 13.5 dpc (days post conception), bat embryos develop
subepidermal blisters (“blebs”) around the eyes and the sides of the
head; postnatal bat mice do not exhibit such blebs. Light microscopic
analysis reveals that blebs are characterized by a separation of the
dermal and epidermal layers of the skin, and by electron microscopy, it
is seen that the dissection occurs at the basement membrane underlying
epidermal cells. Bat mutants have no true eyelids; eyes are permanently
closed due to a pseudoblepharon (a layer of skin covering the eye),
occurring either unilaterally or bilaterally. Approximately two-thirds of
the homozygous stock is affected in both eyes, with the remaining one-
third in only one eye (absence of a pseudoblepharon in both eyes is
rarely observed). Histological analysis reveals that the corneal
epithelium, conjunctiva epithelium, and eyelid epithelium are absent.
Unilateral renal agenesis is found in approximately 20% of adult bat
homozygotes.
Heterozygous phenotype: Wild-type
Strain Type:
Founder genetic background: C57BL/6J
Strain genetic background: C57BL/6J
Strain Development:
Original mutant was a C57BL/6J G3 ENU-
induced mutant; all subsequent crosses to maintain strain were on
C57BL/6J background only.
Donor: Bruce Beutler, M.D., The Scripps Research Institute
Primary Reference:
Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5. Epub 2004 Sep 2. (Medline PMID: 15345741)
For additional information, please see: Mutagenetix, a catalogue of mutations identified in the Beutler Laboratory at The Scripps Research Institute.
None
Mice recovered from a cryo-archive will have health surveillance performed on the
resuscitated animals.
Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.
* Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.
Click button to Request this one strain.
(Use the MMRRC
Catalog Search to request more than one strain.)
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Distribution Fee/unit (US $) |
Units | Notes | ||||
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Litter | Recovered litter1; additional fees for any special requests. | ||||
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Aliquot | Approximate quantity.2 | ||||
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Aliquot | Approximate quantity3: 20-40 embryos / aliquot | ||||
1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one breedable mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.
2 An aliquot contains sufficient material (volume and concentration) for at least two IVF or several artificial inseminations (based on our procedures). The MMRRC makes no guarantee concerning success of these procedures when performed outside the MMRRC facilities.
3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the "Request this Strain" button above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (207) 288-6009 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to information.
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Last Modified: June 23, 2010