Mouse Genome Informatics
hm1
     Gbatm2Ggb/Gbatm2Ggb
involves: 129S5/SvEvBrd * C57BL/6
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
cardiovascular system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 13 months of age

hematopoietic system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 1 year of age
• small accumulations of glucosylceramide at 13 months of age

immune system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 1 year of age
• small accumulations of glucosylceramide at 13 months of age

liver/biliary system
abnormal liver physiology ( J:86334 )
• small accumulations of Glucosylceramide at 13 months of age

respiratory system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 13 months of age

Mouse Models of Human Disease
 OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334


Mouse Genome Informatics
ht2
     Gbatm2Ggb/Gbatm1Nsb
involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
cardiovascular system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

hematopoietic system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

immune system
abnormal spleen morphology ( J:86334 )
• small numbers of storage cells at 8-9 months of age
• small accumulations of glucosylceramide at 9 months of age

liver/biliary system
abnormal liver physiology ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

respiratory system
abnormal pulmonary circulation ( J:86334 )
• small accumulations of glucosylceramide at 9 months of age

Mouse Models of Human Disease
 OMIM IDRef(s)
Gaucher Disease, Type I 230800 J:86334
Gaucher Disease, Type III 231000 J:86334


Mouse Genome Informatics
cx3
     Gbatm2Ggb/Gbatm2Ggb
Psaptm1Suz/Psaptm1Suz
involves: 129P2/OlaHsd * 129S5/SvEvBrd
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
nervous system
neuron degeneration ( J:174780 )
• degenerating neurons are seen in multiple brain regions in 12 week old mutants, including the substantia nigra and cortex as indicated by the presence of eosinophilic spheroids
• degenerative changes occur concomitantly with an accumulation of soluble and insoluble alpha-synuclein