Family Identifier |
NMF242 |
Synonym(s) |
C57BL/6J-nmf242/J; JR#5010 |
Synopsis |
Splayed hind limbs, unsteady gait, torso swaying. |
Gene Symbol |
nmf242 (View MGI Record) |
Gene |
neuroscience mutagenesis facility242 |
Allele Symbol |
nmf242 (View MGI Record) |
Allele |
neuroscience mutagenesis facility242 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The mutants exhibit an unsteady gait, at times staggering forward with their torso swaying intensely; hind limbs are splayed apart and show clumsy, overshooting movements. Occasionally (between 6-7 weeks of age), intense spasms can be observed in the hind limb and lower back area, which may culminate in high (pop-corn like) jumps. The phenotype becomes noticeable at approximately 4 weeks of age (mean 3.9+/- 1.4 weeks, n=96); a colony can be maintained through heterozygous or mutant by C57BL/6J matings. Because of the phenotype and map position observed, complementation testing with Cacna1a (JAX# 0544) was performed; however, heterozygote matings did not result in any mutants (16 normal progeny), and indicate therefore that nmf242 does not represent an allele of Cacna1a.
(View video)
|
Pathology Report |
Standard pathology work-up did not show any abnormalities. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 1 heterozygous x heterozygous mating resulted in 1 mutant in a total of 5 progeny; 1 heterozygous x mutant mating resulted in 4 mutants in a total of 9 progeny. |
Chromosome |
8 |
Molecular Interval |
between D8Mit264 and D8Mit248 |
Map
|
|
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: Maps reflect an approximate chromosomal location based on the information available, see 'Molecular Interval'. (7) NMF242 have been requested by and distributed to 1 investigator.
|
Contact e-Mail Address |
nmf-mice@jax.org |