Family Identifier |
NMF293 |
Synonym(s) |
C57BL/6J-nmf293/J; JR#5102 |
Synopsis |
Body tremor, unstable gait. |
Gene Symbol |
nmf293 (View MGI Record) |
Gene |
neuroscience mutagenesis facility293 |
Allele Symbol |
nmf293 (View MGI Record) |
Allele |
neuroscience mutagenesis facility293 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
Mutants show body tremor, tottering gait, i.e. they move around with slight side-to-side swaying of the posterior part of their body. When the mice are picked up by their tail, the hind limbs tend to extend forward. The onset of the phenotype can be observed at approximately 5 weeks of age (average 5+/-2.8 weeks of age; n=105). A colony can be maintained through regular breeding.
|
Pathology Report |
Standard pathology work-up on two mutants (77 or 148 days of age) revealed a loss of granule and Purkinje cells. Thickened otoconia in the ear, a few small muscle fibers and severe testicular atrophy were noted only in the older mouse. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; a homozygote x homozygote mating produced 9 affected mice in a total of 9 progeny.
Three different heterozygote x heterozygote matings produced 4 affected mice in a total of 11 progeny.
|
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Cryopreservation in progress |
Contact e-Mail Address |
wayne.frankel@jax.org |