Family Identifier |
NMF65 |
Synonym(s) |
C57BL/6J-nmf65/J; JR#4470 |
Synopsis |
Low grip strength and hind limb weakness. |
Gene Symbol |
nmf65 (View MGI Record) |
Gene |
neuroscience mutagenesis facility65 |
Allele Symbol |
nmf65 (View MGI Record) |
Allele |
neuroscience mutagenesis facility65 |
Abnormal Assay(s) |
Assay: Grip strength
Domain(s): Movement/Neuromuscular Function
Assay: Overt movement/posture
Domain(s): Visible Mutants
Assay: Body weight
Domain(s): Growth/Development
|
Phenotype Description |
Mutants are small and show reduced grip strength (< 2 S.D. B6 mean) at 12 weeks of age. At 16 weeks of age they show an unsteady gait and labored breathing. By 17 weeks of age the mice appear extremely wasted.
|
Pathology Report |
Standard pathology work-up on three mutants revealed mild myopathy in all muscles characterized by scattered small muscle fibers often with central nuclei. Whole muscle mounts of hind limb stained with flurorescent-labeled bungarotoxin, SV2 and SMI 31 revealed no abnormalities of neuromuscular junctions. GFAP immunohistochemistry of brain and spinal cord showed gliosis of white matter in medulla and spinal cord. In dorsal columns of spinal cord the sensory tracts were quite severely gliotic, but the corticospinal tract was normal. A few dystrophic axons were observed in low lumbar spinal cord. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 3 heterozygous matings produced 3 affected mice in a total of 17 progeny. |
Chromosome |
11 |
Molecular Interval |
D11Mit368 - 6.0 cM - nmf65 - 7.8 cM - D11Mit41 |
Map
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org.
(3) NMF65 or DNA have been requested by and distributed to 2 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |