STOCK Fbn2^fp-3J/J

Stock number: 003820
Product name: sne
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs

Description

These mice carry an ethylmethanesulphonate (EMS) induced mutation characterized by syndactyly.

Detailed description

Mice homozygous for the recessive fused phalanges 3 Jackson mutation (Fbn2^fp-3J) have syndactyly of the second, third, and/or the fourth digits of the hindlimbs and sometimes also the frontlimbs (Munroe et al., 2000; Browning et al., 2001.) This syndactyly likely results from defective mesenchyme differentiation rather than failed interdigital apoptosis (Arteaga-Solis et al., 2001).

Development

The v6.4 ES cell line was derived from (129S4/SvJae x C57BL/6J) F1 embryo. V6.4 ES cells were treated with ethylmethanesulphonate and injected into blastocysts. The resulting chimeras were bred with C57BL/6J mates and their offspring were backcrossed again to C57BL/6J. These G2 offspring were then backcrossed to their G1 parent to produce G3 offspring in which the recessive Fbn2^fp-3J mutation was then first recognized. The chimera that transmitted this mutation was v6.4-C7. For mapping purposes, homozygous males were subsequently bred to CAST/Ei females. Sperm were cryopreserved from homozygous male progeny on this mixed background.

Allele

Symbol: Fbn2^fp-3J
Name: fused phalanges 3 Jackson
MGI accession ID: MGI:2157491
Generation method: Chemically induced (other)
Synonyms: Fbn2^fp-3J; Fbn2^fp-sne; sne
Marker symbol: Fbn2
Marker name: fibrillin 2
Marker synonyms: CCA; DA9; EOMD; Fib-2; Sne; sy
Chromosome: 18
Strain of origin: (C57BL/6J x 129S4/SvJae)F1
Molecular note: The 3' end of a LINE element, including an approximately 120-bp poly(A) tail, 657 bp of 3'UTR, and 61 amino acids from the 3' end of ORF2, replaced a 672 bp segment of the gene including 465 bp of the 3' end of intron 57, exon 58 in its entirety, and 81 bp of the 5' end of intron 59.
General note: v6.4 ES cells were heavily mutagenized with ethylmethanesulphonate (EMS).