C3HeB/FeJ-Ctsd^m1J/GrsrJ

Stock number: 017567
Research areas: Metabolism Research, Neurobiology Research

Description

This spontaneous point transition in a splice acceptor site provides a model for neuronal ceroid lipofuscinosis 10

Detailed description

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.

Development

The Ctsd^m1J 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

Symbol: Ctsd^m1J
Name: mutation 1, Jackson
MGI accession ID: MGI:5752221
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Ctsd
Marker name: cathepsin D
Chromosome: 7
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.