B6;129S6-Gba1^tm1Nsb/J

Stock number: 002594
Product name: Gba KO
Research areas: Dermatology Research, Mouse/Human Gene Homologs

Detailed description

Mice homozygous for this mutation die neonatally due to a defect in the skin vapor barrier. Homozygous mice are small at birth and display an abnormal respiration that progresses to cyanosis and death. This phenotype is similar to a severe infantile form of Gaucher's disease in humans.

Allele

Symbol: Gba1^tm1Nsb
Name: targeted mutation 1, Edward Ginns
MGI accession ID: MGI:1857175
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Gba1
Marker name: glucosylceramidase beta 1
Chromosome: 3
Strain of origin: 129S/SvEv-Gpi1^c
Molecular note: A neomycin resistance cassette was inserted into exons 9 and 10 of the gene, which encode part of the active site of the enzyme. Enzymatic activity of the targeted protein in homozygous mutant mice was less than 4% of controls.
General note: Homozygotes for the mutation die within 24 hours after birth, and store glucocerebroside in reticuloendothelial cell lysosomes (J:1100). Epidermal effects of Gba^tm1Nsb include elevated glucosylceremide, diminished ceremide, and incompetent barrier function (J:17577).

Phenotypic Similarity to Human Syndrome: Gaucher Disease J:200186