This spontaneous point transition in a splice acceptor site provides a model for neuronal ceroid lipofuscinosis 10. By three weeks of age homozygotes become thinner overall with a sunken stomach and general weakness. Most die by 3 weeks of age while some survive to almost 4 weeks of age, but none have survived longer. Homozygotes are completely deaf. Heterozygous intercrosses have generated fewer than 10% homozygous live pups.
The Ctsdm1J mutation arose spontaneously in a colony of C3HeB/FeJ inbred mice at The Jackson Laboratory when that inbred was at generation F174+15. This mutant subline was maintained by sibling mating and sperm was cryopreserved from heterozygous males.
|Allele Name||mutation 1, Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Ctsd, cathepsin D|
|Strain of Origin||C3HeB/FeJ|
|Molecular Note||This spontaneous C-to-T transition (G-to-A on negative gene strand) at chromosome 7 position 142,385,619 bp (GRCm38) destroys the exon 2 splice acceptor site by changing it from CAG to CAA.|