Primary Identifier | MGI:1856965 | Allele Type | Spontaneous |
Gene | Large1 | Inheritance Mode | Recessive |
Strain of Origin | STOCK Edn3<ls> | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |