C57BL/6J-nmf67/J

Stock number: 004472
Research areas: Neurobiology Research

Description

These mice carry an ENU-induced mutation characterized by muscle weakness, abnormal gait, body tremors, and early mortality.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed 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.

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.

Allele

Symbol: nmf67
Name: neuroscience mutagenesis facility, 67
MGI accession ID: MGI:2651831
Generation method: Chemically induced (ENU)
Marker symbol: nmf67
Marker name: neuroscience mutagenesis facility, 67
Chromosome: UN
Strain of origin: C57BL/6J
Molecular note: This phenotypic mutant was identified in an ENU mutagenesis screen.