Mice homozygous for the recessive fused phalanges 3 Jackson mutation (Fbn2fp-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).
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 Fbn2fp-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 Name||fused phalanges 3 Jackson|
|Allele Type||Chemically induced (other)|
|Allele Synonym(s)||Fbn2fp-3J; Fbn2fp-sne; sne|
|Gene Symbol and Name||Fbn2, fibrillin 2|
|Strain of Origin||(C57BL/6J x 129S4/SvJae)F1|
|General Note||v6.4 ES cells were heavily mutagenized with ethylmethanesulphonate (EMS).|
|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.|