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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gbatm2Karl
targeted mutation 2, Stefan Karlsson
MGI:3764510
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gbatm2Karl/Gbatm2Karl involves: 129S1/Sv * 129X1/SvJ MGI:3764514
cn2
Gbatm2Karl/Gbatm2Karl
Tg(KRT14-cre)8Brn/?
involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:3764515


Genotype
MGI:3764514
hm1
Allelic
Composition
Gbatm2Karl/Gbatm2Karl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm2Karl mutation (1 available); any Gba mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Gbatm2Karl/Gbatm2Karl (upper left) mice display a lethal skin phenotype whileGbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? (lower) mice display paralysis

mortality/aging
• mice die within a few hours of birth with a similar skin phenotype as observed in other Gba defective mice

integument
• mice die within a few hours of birth with a similar skin phenotype as observed in other Gba defective mice




Genotype
MGI:3764515
cn2
Allelic
Composition
Gbatm2Karl/Gbatm2Karl
Tg(KRT14-cre)8Brn/?
Genetic
Background
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 (16 available)
Tg(KRT14-cre)8Brn mutation (2 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

mortality/aging

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

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 ID Ref(s)
Gaucher Disease, Type II 230900 J:127108





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory