| First Author | Harris BS | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:211397 |
| Mgi Id | MGI:5574586 | Citation | Harris BS, et al. (2014) Fused phalanges 4 Jackson: a new spontaneous mutation in Fbn2. MGI Direct Data Submission |
| abstractText | The fused phalanges 4 Jackson (Fbn2<fp-4J>) mutation arose spontaneously at The Jackson Laboratory in the BALB/cByJ-Map7<mshi>/J strain. Homozygotes have fused or missing third digits from the hind feet. Eye examinations of two homozygotes at 5 months of age found no abnormalities. SNP typing of F2 mice from a mapping cross with 129S1/SvImJ defined a map interval between Chr18: 29,957,569 and 80,389,145 (NCBI37/mm9). Exome sequencing revealed an A to G variant at Chr18: 58,195,561 (MGSCv37) that is predicted to result in the missense mutation, S2267P, in one transcript isoform of fibrillin 2 corresponding to S998P in a second transcript isoform. |
