Family Identifier |
NMF313 |
Synonym(s) |
C57BL/6J-nmf313/J |
Synopsis |
The mutants show splayed hind limbs, body tremor and staggering gait. |
Gene Symbol |
nmf313 (View MGI Record) |
Gene |
neuroscience mutagenesis facility313 |
Allele Symbol |
nmf313 (View MGI Record) |
Allele |
neuroscience mutagenesis facility313 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The phenotype becomes visible at approximately 3 weeks of age (mean 3.5 +/- 0.7 weeks ; n=21). The hind limbs of mutants are set wide apart during movement and rest, the mice show intense body tremor with intermittent hind limb spasms, trunk swaying and forward staggering movements (cerebellar ataxia). They lose balance occasionally, which they regain quickly. When the mice are lifted up by their tail, the hind limbs tend to clutch to their body. Female mutants (n/n) of this line breed well, males do not; a colony can be maintained through heterozygotes x heterozygotes matings.
(View video)
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Pathology Report |
Standard pathology work-up on two mutants (29 or 289 days of age) revealed a loss of granule cells in the cerebellum, which appeared less pronounced in the younger mouse. An over abundance of unmigrated granule cells located in the molecular layer was also noted in the older mouse. Brain histology, including Calbindin immunohistochemistry, was performed on two additional mutants (45 or 49 days of age) and confirmed the granule cell loss, but did not reveal any other abnormalities. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 heterozygous x heterozygous matings produced 4 affected mice in a total of 15 progeny.
|
Chromosome |
6 |
Molecular Interval |
D6Mit93 - 4.3 cM - nmf313 - 8.8 cM - D6Mit188; linkage: D6Mit93 = LOD 8.2; D6Mit188 LOD= 6.7 |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
|
Comments |
(7) NMF313 have been requested by and distributed to 1 investigator. |
Contact e-Mail Address |
nmf-mice@jax.org |