This spontaneous point transition in a splice acceptor site provides a model for neuronal ceroid lipofuscinosis 10
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Not Specified) | Ctsd | cathepsin D |
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 |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | |
Gene Symbol and Name | Ctsd, cathepsin D |
Gene Synonym(s) | |
Strain of Origin | C3HeB/FeJ |
Chromosome | 7 |
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. |
When using the C3HeB/FeJ-Ctsdm1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #017567 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Ctsd<m1J> |
Frozen Mouse Embryo | C3HeB/FeJ-Ctsd<m1J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | C3HeB/FeJ-Ctsd<m1J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | C3HeB/FeJ-Ctsd<m1J>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | C3HeB/FeJ-Ctsd<m1J>/GrsrJ | $3373.50 |
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