GbaL444P Knock-in Mouse
Also known as: Gbatm1Rlp, Type 3 Gaucher disease mouse
Gaucher 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. The Gbatm1Rlp allele carries the L444P mutation. Mice homozygous for the Gbatm1Rlp 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 on PubMed.
Mice can be obtained from MMRRC.