Phenotypes associated with this allele

• Allele Symbol: Gba1^tm1Ggb
• Allele Name: targeted mutation 1, Gregory A Grabowski
• Allele ID: MGI:2680317
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gba1^tm1Ggb/Gba1^tm1Ggb	involves: 129S5/SvEvBrd * C57BL/6	MGI:2680386

Genotype
MGI:2680386

hm1

• Allelic Composition: Gba1^tm1Ggb/Gba1^tm1Ggb
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:86334 )

• pups died within 24 hours of birth

integument

dry skin ( J:86334 )

wrinkled skin ( J:86334 )

abnormal skin condition ( J:86334 )

• pups resemble those of Gba^tm1Nsb

• red, wrinkled, dry skin typical of a disrupted skin permeability barrier

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