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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm2Karl mutation (1 available); any Gba mutation (23 available)
Tg(KRT14-cre)8Brn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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


nervous system
• 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
• apoptotic cells are observed in the thalamus, dendate gyrus of the hippocampus and cerebellum
• 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

• 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

• 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
DO ID OMIM ID(s) Ref(s)
Gaucher's disease type II DOID:0110958 OMIM:230900

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory