| First Author | Harris BS | Year | 2018 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:258368 |
| Mgi Id | MGI:6147711 | Citation | Harris BS, et al. (2018) The spontaneous mutation tail kinks or bends (tkb). MGI Direct Data Submission |
| abstractText | The mutation tail kinks or bends (tkb) arose spontaneously in the C.Cg-Tg(SKP2)4Paga/J strain at The Jackson Laboratory. Mice homozygous for tkb can have one or more than one kink or bend in the tail, but this mutation has a low penetrance. Backcrossing to BALB/cByJ removed the transgene but this recessive phenotype persisted so the transgene did not contribute to this phenotype. Auditory brainstem response analysis and ophthalmoscopic examination found no defects in the hearing or eyes. On the BALB/cByJ background intercrossing homozygotes with heterozygotes and vice versa, which should yield 50% mutants, yielded a total of 10 mutants out of 123 born with 9 of those lost in the first week of life for a yield of only 8.1% or 15.5% if all lost pups were homozygous. Intercrossing heterozygotes, which should yield 25% homozygotes, yielded at total of 15 mutants out of 355 born, with 6 of these lost in the first week of life for a yield of only 4.2% affected or 5.9% if all lost pups were homozygous. A mapping cross to FVB/NJ failed to obtain any mutants in more than 41 pups in the F2 population, a mapping cross to CAST/EiJ also failed to generate any mutants in 65 F2 mice, a mapping cross to 129S1/SvImJ had extremely low penetrance with only 20 mutants out of 705 pups in the F2 population with 11 pups lost perinatally, and a mapping cross to C3H/HeSnJ generated only 27 mutants out of 299 F2 offspring with 12 pups either born dead or lost perinatally. Linkage to a specific chromosome has not been identified. |
