These mice carry an ENU-induced mutation characterized by hind limb spasms and abnormal reaction.
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Because of the phenotypic similarity to laminin, alpha2 mutations (Lama2a; old symbol: dy), a complementation test with B6.129P-Lama2dy/J was performed; a heterozygous mating (NMF417 X B6.129P1-Lama2dy/J, Stock No. 000641) resulted in 3 affected mice in a total of 10 progeny, and suggests that NMF417 indeed represents a new allele of Lama2.
The overt phenotype is characterized by hind limb spasms that may extend limbs backward or contract them close to the body; similarly, when the mutants are lifted by their tail, the hind legs do not show the typical side-way spread, but are either contracted to the body or extended backward. The average onset of the phenotype is observed at 4.2 weeks of age (+/- 2.1; n=5). Standard pathology work-up on one mutant (110 days of age) showed myopathy and un-myelinated peripheral nerve fibers. Mutants breed well and a colony can be maintained through regular breeding.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||dystrophia muscularis 7, Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Lama2nmf417; neuroscience mutagenesis facility, 417; NMF417|
|Gene Symbol and Name||Lama2, laminin, alpha 2|
|Strain of Origin||C57BL/6J|
|Molecular Note||This mutation was shown by complementation analysis versus the original, dystrophia muscularis mutation to be an allele of Lama2. The molecular lesion is a single base change from T to C at the first position of codon 79, which converts Cys79 to Arg.|