GbaL444P Knock-in Mouse

Also known as:Gbatm1Rlp, Type 3 Gaucher disease mouseGaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene encoding the lysosomal enzyme, glucocerebrosidase encoded by the Gba gene. The L444P mutation in GBA is associated with type 3 Gaucher disease. TheGbatm1Rlp allele carries the L444P mutation. Mice homozygous for theGbatm1Rlp allele have reduced glucocerebrosidase activity and diewithin 48 hr of birth, of a compromised epidermal permeability barrier caused by defective glucosylceramide metabolism in the epidermis. Learn more onPubMed.Mice can be obtained from MMRRC.

Source: NIDDK Research Resources - September 17, 2018 Category: Endocrinology Source Type: research