B6.B-Vps54^wr/J

Stock number: 009680
Research areas: Endocrine Deficiency Research, Neurobiology Research, Reproductive Biology Research

Description

Mice that are homozygous for this Vps54 (vacuolar protein sorting 54 (yeast)) spontaneous mutation, wobbler, on the C57BL/6 background are viable, but infertile and die prematurely. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1.

Detailed description

Mice that are homozygous for this spontaneous mutation on the C57BL/6 background are viable, but infertile and die prematurely. The average lifespan is 3 months, although this can be increased if littermates are present in the cage, the Donating Investigator reports. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1.

Development

The mutation was first recorded by Dr. D.S. Falconer at the Institute of Animal Genetics, Edinburgh, Scotland in 1956. The mutation arose in C57BL/Fa. In 1979 mice were obtained from Dr. Richard Sidman (The Childrens Hospital, Boston, MA, USA) by Dr. Harald Jockusch and backcrossed to C57BL/6J at University of Bielefeld (Bielefeld, Germany). In 2006 the strain was moved to Dr. Sendtner's laboratory at the University of Wuerzburg (Wuerzburg, Germany) and backcrossed to C57BL/6J for 7 generations.

Allele

Symbol: Vps54^wr
Name: wobbler
MGI accession ID: MGI:1857091
Generation method: Spontaneous
Marker symbol: Vps54
Marker name: VPS54 GARP complex subunit
Chromosome: 11
Strain of origin: C57BL/Fa
Molecular note: A T-to-A transversion occurs in the second position of codon 967 in exon 23. This results in a leucine to glutamine amino acid substitution at position 967 (p.L967Q). Gene splicing is not affected by this mutation. All three normal transcripts are detected.