Family Identifier |
NMF347 |
Synonym(s) |
C57BL6/J-nmf347/J; JR#5448 |
Synopsis |
Body tremor, head nodding. |
Gene Symbol |
nmf347 (View MGI Record) |
Gene |
neuroscience mutagenesis facility347 |
Allele Symbol |
nmf347 (View MGI Record) |
Allele |
neuroscience mutagenesis facility347 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
These mutants are smaller than their unaffected littermates, and show intense body tremor, head nodding, and occasional hind limb spasms. The on-set of the phenotype is at 4.7 weeks of age (+/- 1.1 week; n=74); however, these behaviors intensify with age, and older mutants show intense hind limb spasms, torso swaying, at times loose their balance and fall over (trunk ataxia). When lifting the mice by their tail, hind limbs might not spread, and front limbs tend to stretch forward. A colony can be maintained through regular breeding.
(View video)
|
Pathology Report |
Standard pathology work-up on three mutants (26 - 128 days of age) revealed no abnormalities. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 different heterozygote x heterozygote matings produced 7 mutants in a total of 31 progeny. |
Chromosome |
10 |
Molecular Interval |
between D10Mit138 (cM30.0-5.0; LOD5.4) and D10Mit15 (cM35.0-5.0; LOD5.4) |
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Contact e-Mail Address |
nmf-mice@jax.org |