Primary Identifier | MGI:1858521 | Allele Type | Spontaneous |
Gene | Gnb5 | Inheritance Mode | Recessive |
Strain of Origin | C57BL/10J x B6CBA/Ca | Is Recombinase | false |
Is Wild Type | false |
description | The flailer mutation, originally called tb2J, was a presumed remutation of tb because of a similar phenotype. This mutation, however, does not map to Chr 1, and the original unpublished report of linkage of tb to Chr 1 is in doubt. Thus, it is not clear whether tb2J is a remutation at the tb locus which was not on Chr 1, or if tb2J is a new mutation at a different locus. Because of its linkage to a different chromosome, tb2J was renamed flr. flr mutants have a variable neurological phenotype. Half of all flailer homozygotes show severe ataxia and only live for 3 weeks; these mutants tend to fall over and flail their limbs in an effort to right themselves. The other half of flailer homozygotes, however, only develop a transient ataxia; they recover, are fertile, and have a normal life span. |
molecularNote | Hybrid. This mutation is caused by gene shuffling between Gnb5 and Myo5a. The shuffling combines the promoter of the first two exons of Gnb5 with the C-terminal exons of Myo5a. Flailer homozygotes express transcripts of three genes: wild-type Gnb5, wild-type Myo5a and the flailer hybrid gene. |