Mouse Genome Informatics
cn
    Gbatm2Karl/Gbatm2Karl
Tg(KRT14-cre)8Brn/?

involves: 129S1/Sv * 129X1/SvJ * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Gbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? mice display a severe and rapidly progressive neurological disease

mortality/aging

nervous system
• apoptotic cells are observed in the thalamus, dendate gyrus of the hippocampus and cerebellum
• brain cellularity is reduced particularly in the cortex and thalamus
• the cerebellum and nuclei of the pons and medulla exhibit lose of cellularity that is associated with abundant pyknotic cells
• large neurons are surrounded by ameboid-shaped cells (microglia-like) and those in the motor trigeminal nuclei and pons regions have huge vacuoles likely due to lipid accumulation
• neurons in the CA3 and dendate gyrus undergo degeneration
• however, neurons in the CA1 are unaffected
• pyramidal neurons are lost from the cortical layer
• the number of Purkinje cells in the cerebellum is decreased compared to in wild-type mice and those present exhibit a profound swelling in their axons

behavior/neurological
• mice develop a rapidly progressing neurological disease beginning at day 10 with abnormal gait, hyperextension of the neck and seizure
• at 2 weeks of age mice develop end-stage paralysis

hematopoietic system
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver

homeostasis/metabolism
• glucosylceramide accumulates in the brain, spleen and liver unlike in wild-type mice

immune system
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver

Mouse Models of Human Disease
OMIM IDRef(s)
Gaucher Disease, Type II 230900 J:127108