Phenotypes associated with this allele

• Allele Symbol: Gba1^tm1Nsb
• Allele Name: targeted mutation 1, Edward Ginns
• Allele ID: MGI:1857175
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gba1^tm1Nsb/Gba1^tm1Nsb	involves: 129S/SvEv * C57BL/6	MGI:2177138
ht2	Gba1^tm3Ggb/Gba1^tm1Nsb	involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6	MGI:2680504
ht3	Gba1^tm4Ggb/Gba1^tm1Nsb	involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6	MGI:2680512
ht4	Gba1^tm2Ggb/Gba1^tm1Nsb	involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6	MGI:2680399
cx5	Gba1^tm1Bst/Gba1^tm1Nsb Gba/Mtx1^tm1Bst/Mtx1^+	involves: 129S/SvEv * 129S4/SvJae	MGI:3652806

Genotype
MGI:2177138

hm1

• Allelic Composition: Gba1^tm1Nsb/Gba1^tm1Nsb
• Genetic Background: involves: 129S/SvEv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality ( J:1100 )

behavior/neurological

abnormal food intake ( J:1100 )

• decreased feeding

akinesia ( J:1100 )

growth/size/body

decreased birth weight ( J:1100 )

• underweight, evident at birth

hematopoietic system

abnormal macrophage morphology ( J:1100 )

• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

homeostasis/metabolism

cyanosis ( J:1100 )

immune system

abnormal macrophage morphology ( J:1100 )

• macrophages in liver, bone marrow, spleen, and brain show lysosomal lipid accumulation

respiratory system

abnormal respiration ( J:1100 )

• respire abnormally from birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease type II		DOID:0110958	OMIM:230900	J:1100

Genotype
MGI:2680504

ht2

• Allelic Composition: Gba1^tm3Ggb/Gba1^tm1Nsb
• Genetic Background: involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6

cardiovascular system

abnormal pulmonary circulation ( J:86334 )

• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

hematopoietic system

abnormal spleen morphology ( J:86334 )

• small numbers of storage cells at 3-4 months of age

• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

immune system

abnormal spleen morphology ( J:86334 )

• small numbers of storage cells at 3-4 months of age

• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

liver/biliary system

abnormal liver physiology ( J:86334 )

• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

respiratory system

abnormal pulmonary circulation ( J:86334 )

• small accumulations of glucosylceramide (2X wild-type values) at 6.5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease		DOID:1926		J:86334

Genotype
MGI:2680512

ht3

• Allelic Composition: Gba1^tm4Ggb/Gba1^tm1Nsb
• Genetic Background: involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6

cardiovascular system

abnormal pulmonary circulation ( J:86334 )

• large numbers of storage cells at 3 months of age

• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

hematopoietic system

abnormal spleen morphology ( J:86334 )

• small numbers of storage cells at 3-4 months of age

• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

immune system

abnormal spleen morphology ( J:86334 )

• small numbers of storage cells at 3-4 months of age

• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

liver/biliary system

abnormal liver physiology ( J:86334 )

• small numbers of storage cells at 3 months of age

• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

respiratory system

abnormal pulmonary circulation ( J:86334 )

• large numbers of storage cells at 3 months of age

• accumulations of glucosylceramide (4X wild-type values) at 6.5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease		DOID:1926		J:86334

Genotype
MGI:2680399

ht4

• Allelic Composition: Gba1^tm2Ggb/Gba1^tm1Nsb
• Genetic Background: involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6

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		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease		DOID:1926		J:86334

Genotype
MGI:3652806

cx5

• Allelic Composition: Gba1^tm1Bst/Gba1^tm1Nsb; Gba/Mtx1^tm1Bst/Mtx1⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae

mortality/aging

neonatal lethality, complete penetrance ( J:25197 )

• animals die within 24 hours of birth

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:25197 )

• mutants have about 5% of control glucocerebrosidase activity