These mice carry an ENU-induced mutation characterized by small size and severely impaired gait. Homozygotes have a severe startle disease-related phenotype and die by postnatal day 21.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
Early onset visible phenotype characterized by small size and severely impaired gait that becomes detectable between 18-21 days (mean 18.6 +/- 1.7 days). Gently dropping the animals from a height of 10-15cm onto a soft surface frequently induces intense seizure-like behavior that may last several minutes (generalized seizure-like episodes, including front and hind limb contractions, hind limb extensions); however the animals recover and continue to move around. Electroretinograms (ERG) showed abnormal b-waves in three (2 males, 1 female) of four mutants examined. Mutants of either gender have been produced; homozygotes are not viable.
Standard pathology work-up on five mutants (age 18-23 days) suggested a possible delay in myelination, however, additional pathology (2 mutants and 1 normal 22 day old littermate) showed this not to be the case. Three of five mutants also had atrophic thymus, small spleen and little or no white fat. In two mutants, apoptotic cells were seen in the inner aspect of the dentate gyrus, and in one mutant, a small focal necrosis was present in the paraspinal muscles. Standard eye histology on one mutant and one control littermate (age 23 days) showed no abnormalities.
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||neuroscience mutagenesis facility, 11|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Glra1, glycine receptor, alpha 1 subunit|
|Strain of Origin||C57BL/6J|
|Molecular Note||This phenotypic mutant was identified in an ENU mutagenesis screen. A cytosine to adenine transition at nucleotide 518 causes a N46K amino acid substitution. A complement test confirmed the gene association.|