| First Author | Harris BS | Year | 2014 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:215011 |
| Mgi Id | MGI:5604381 | Citation | Harris BS, et al. (2014) The bouncy 6 Jackson allele of Kcnn2. MGI Direct Data Submission |
| abstractText | The bouncy 6 Jackson mutation was identified in the offspring of an ENU mutagenized C57BL/6J male. This mutation has been maintained coisogenic on C57BL/6J. Homozygotes display a jittery trembling movement most noticeable at 3 weeks of age and less apparent as the mice age. Males are usually sterile. Ophthalmoscopy and auditory brainstem response testing of 3 homozygotes at 5 months of age did not reveal any ocular or hearing abnormalities. Standard pathological screening found no lesions in 2 females at 10 weeks of age, mild hydrocephalus in one female at 53 weeks of age and a stomach ulcer in another female at 53 weeks of age. A mapping cross with CAST/EiJ produced 66 mutant, 4 born dead, and 17 found dead or missing progeny before phenotypic assessment of the 465 F2 offspring produced in heterozygous intercrosses. If all 21 pups that died before phenotypic assessment were homozygous for the bouncy 6 Jackson mutation the yield is still fewer than 19% homozygotes from heterozygous intercrosses, indicative of some prenatal lethality. Mice expressing this phenotype mapped to Chromosome 18 between D18Mit149 and D18Mit91 and failed a complementation test with the bouncy 3 Jackson mutation, proving this an allele of Kcnn2. A single A to T transversion at Chromosome 18 position 45,845,073 (MGSCv37) was identified, which is predicted to cause a nonsense mutation that changes arginine to a stop codon at residue 528 in the last exon of Kcnn2. |
