Family Identifier |
NMF67 |
Synonym(s) |
C57BL/6J-nmf67/J; JR#4472 |
Synopsis |
Splayed, weak hind limbs, body tremor; the mutants are small and have retinal defects. |
Gene Symbol |
nmf67 (View MGI Record) |
Gene |
neuroscience mutagenesis facility67 |
Allele Symbol |
nmf67 (View MGI Record) |
Allele |
neuroscience mutagenesis facility67 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
Assay: Body weight
Domain(s): Growth/Development
Assay: Eye histology
Domain(s): Histology
; Eye/Vision
|
Phenotype Description |
The mutants are characterized by muscle weakness and abnormal gait, which become apparent at four weeks of age (average onset 4 +/-0.5. weeks, n=74); an intense body tremor can be observed at 3 weeks or younger. The animals die relatively young (at approximately 6-9 weeks of age), i.e. prior to most phenotype screening, and a colony needs to be maintained through ovarian transplants.
|
Pathology Report |
Whole muscle mounts of the hind limb of a mutant (23 days of age) labeled with fluorescent-labeled bungarotoxin, SV2, and SMI 31 revealed abnormal formation of the neuromuscular junctions. The receptors appeared broken up and have not resolved into a smooth continuous shape. Standard pathology work-up on six additional mutants (23-30 days of age) showed vacuolation in the white matter of the medulla, cerebellum, and spinal cord. In addition, the eyes of affected mutants showed multi-focal abnormalities in the retina. Nuclei of the outer nuclear layer were displaced into the photoreceptor layer. Histology performed on one dead pup (~24 hours old) revealed a high septal defect in the heart. Hearts from the other mutants appeared normal. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Not Proven; 2 heterozygous matings produced 10 affected mice in a total of 21 progeny. |
STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: 1- While this mutation is available, it has not yet been chromosomally mapped - an important part of determining whether it is allelic with a previously characterized mutation; 2- 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- (87) NMF67 or DNA have been requested by and distributed to 5 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |