STOCK Large1^myd-3J/GrsrJ

Stock number: 008581
Product name: myodystrophy 3 Jackson
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Homozygous mutants develop muscle degeneration and display retinoschisis.

Detailed description

Mice homozygous for the myodystrophy 3 Jackson mutation generally begin to display evidence of muscle degeneration at two to three months of age, although some exhibit symptoms as early as wean age. Inability to splay the hind legs outward when held up by the tail is an initial phenotype and this progresses with age to include swaying gait then dragging of the hind legs. Homozygotes also display retinoschisis and males are sterile.

Development

The myodystrophy 3 Jackson mutation arose spontaneously at The Jackson Laboratory in 2006 in the strain NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ (stock #005557). To maintain the mutation ovaries from a homozygous female were transplanted into a host which was bred to a C57BL/6J male and the line was then maintained by sibling intercrossing with the Prkdc^scid and Il2rg^tm1Wjl mutations bred out. In 2010 this strain reached generation N1F9.

Allele

Symbol: Large1^myd-3J
Name: myodystrophy 3 Jackson
MGI accession ID: MGI:3799277
Generation method: Spontaneous
Marker symbol: Large1
Marker name: LARGE xylosyl- and glucuronyltransferase 1
Marker synonyms: BPFD#36; enr; fg; froggy; Large; MDC1D; MDDGA6; MDDGB6; mKIAA0609
Chromosome: 8
Strain of origin: NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ
Molecular note: A noncomplementation test with the veils mutation demonstrated that this mutation is an allele of the Large gene.