About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3628482
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsltm1Cptr/Ctsltm1Cptr
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (40 available)
Ctsltm1Cptr mutation (2 available); any Ctsl mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cerebral and cerebellar atrophy in Ctsbtm1Jde/Ctsbtm1Jde Ctsltm1Cptr/Ctsltm1Cptr mice

mortality/aging
• most double homozygous mutant mice died around day 12
• the lifespan of double-mutant mice increased by several days when healthy littermates were removed at day 7
• with continuous nursing with wetted food twice daily, four double mutant mice survived the weaning period up to 50 days old

growth/size/body
• apparent growth impairment by day 7
• double homozygous mutant mice that survived the weaning period at 50 days old weighed less than half of the expected body weight

behavior/neurological
• double homozygous mutant mice that survived the weaning period demonstrated a mild unusual tremor and subtle rear limb spasticity
• double homozygous mutant mice that survived the weaning period swayed backwards while grooming and used their tail for balance
• double homozygous mutant mice that survived the weaning period demonstrated hesitating voluntary movements

nervous system
• neuronal loss was paralleled by an increasing occurrence of hypertrophic astrocytes and Bergmann glia
• widespread TUNEL-positive staining in cerebral cortex and the cerebellar granule cell layer in brains of P23.5-24.5 mutant mice
• the CA3 region of the stratum pyramidale was broadened and split
• 50 days old mice exhibited pronounced cerebral and cerebellar atrophy
• molecular and internal granule cell layer were reduced and the Purkinje-cell layer had disappeared due to massive neuronal death in the cerebellar Purkinje- and granule-cell layers and the cerebral cortex during the third and fourth week of life

integument
• hyperproliferation of keratinocytes

cellular
• neuronal loss was paralleled by an increasing occurrence of hypertrophic astrocytes and Bergmann glia
• widespread TUNEL-positive staining in cerebral cortex and the cerebellar granule cell layer in brains of P23.5-24.5 mutant mice


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/25/2025
MGI 6.24
The Jackson Laboratory