B6C3Fe a/a-Large1^myd/J

Stock number: 000226
Research areas: Neurobiology Research

Development

The myodystrophy mutation, Large^myd, arose spontaneously at the Jackson Laboratory in the lethal spotting strain (LS/LeJ) in 1963. The first affected male was outcrossed to a C57BL/6J female. Matings of a homozygote by heterozygote were carried out as often as possible or as heterozygous pairs. At F43 in 1977 a Large^myd homozygote was mated to a B6C3Fe-a/a hybrid and the strain was maintained by the cross intercross system to the hybrid. When this strain was at N19, it was cryopreserved by mating heterozygous females to heterozygous males to generate embryos.

Allele

Symbol: a
Name: nonagouti
MGI accession ID: MGI:1855937
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: old mutant of the mouse fancy
Molecular note: Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.
General note: Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039

Allele

Symbol: Large1^myd
Name: myodystrophy
MGI accession ID: MGI:1856965
Generation method: Spontaneous
Marker symbol: Large1
Marker name: LARGE xylosyl- and glucuronyltransferase 1
Chromosome: 8
Strain of origin: STOCK Edn3^ls
Molecular note: The mutation underlying the myodystrophy phenotype has been determined to be an intragenic deletion in the glycotransferase gene, Large. The deletion of exons 5-7 cause a frameshift and a premature stop codon before the first two catalytic domains.