Phenotypes for Gba1 MGI:2177138 MGI Mouse

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Phenotypes Associated with This Genotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gba1^tm1Nsb mutation (2 available); any Gba1 mutation (39 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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