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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 (12 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 (J:127108)
• mice die within a few hours of birth with a similar skin phenotype as observed in other Gba defective mice (J:127108)

integument
• mice die within a few hours of birth with a similar skin phenotype as observed in other Gba defective mice (J:127108)
• mice die within a few hours of birth with a similar skin phenotype as observed in other Gba defective mice (J:127108)




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 (12 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

mortality/aging

nervous system
• brain cellularity is reduced particularly in the cortex and thalamus (J:127108)
• the cerebellum and nuclei of the pons and medulla exhibit lose of cellularity that is associated with abundant pyknotic cells (J:127108)
• apoptotic cells are observed in the thalamus, dendate gyrus of the hippocampus and cerebellum (J:127108)
• brain cellularity is reduced particularly in the cortex and thalamus (J:127108)
• the cerebellum and nuclei of the pons and medulla exhibit lose of cellularity that is associated with abundant pyknotic cells (J:127108)
• apoptotic cells are observed in the thalamus, dendate gyrus of the hippocampus and cerebellum (J:127108)
• 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 (J:127108)
• 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 (J:127108)
• neurons in the CA3 and dendate gyrus undergo degeneration (J:127108)
• however, neurons in the CA1 are unaffected (J:127108)
• neurons in the CA3 and dendate gyrus undergo degeneration (J:127108)
• however, neurons in the CA1 are unaffected (J:127108)
• pyramidal neurons are lost from the cortical layer (J:127108)
• pyramidal neurons are lost from the cortical layer (J:127108)
• 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 (J:127108)
• 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 (J:127108)

behavior/neurological
• mice develop a rapidly progressing neurological disease beginning at day 10 with abnormal gait, hyperextension of the neck and seizure (J:127108)
• mice develop a rapidly progressing neurological disease beginning at day 10 with abnormal gait, hyperextension of the neck and seizure (J:127108)
• at 2 weeks of age mice develop end-stage paralysis (J:127108)
• at 2 weeks of age mice develop end-stage paralysis (J:127108)

hematopoietic system
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver (J:127108)
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver (J:127108)

homeostasis/metabolism
• glucosylceramide accumulates in the brain, spleen and liver unlike in wild-type mice (J:127108)
• glucosylceramide accumulates in the brain, spleen and liver unlike in wild-type mice (J:127108)

immune system
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver (J:127108)
• visceral Gaucher cells (macrophages with lipid accumulation observed in Gaucher disease) are present in the spleen and liver (J:127108)

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





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory