Gba1^tm1Rlp
Targeted Allele Detail

Summary

• Symbol: Gba1^tm1Rlp
• Name: glucosylceramidase beta 1; targeted mutation 1, Richard L Proia
• MGI ID: MGI:2180202
• Synonyms: Gba^L444P, L444P
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm1Rlp page

Phenotypes of Gba1^tm1Rlp/Gba1^tm1Rlp and Gba1^tm2Rlp/Gba1^tm2Rlp mice after birth

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:46243
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: A leucine to proline substitution mutation at amino acid position 462 (444 in mature protein) (p.L462P) is associated with Gaucher disease type 3 in humans. This mutation was introduced in mice using a single insertion mutagenesis procedure, changing leucine codon 462 (TTG) to proline (CCG). The level of gene expression in brain of mutant mice is similar to wild-type as determined by Northern blot analysis, but enzyme assays with liver, brain, and skin extracts demonstrate that enzyme activity is 20% that of wild-type. (J:46243)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Gba1 Mutation: 43 strains or lines available

References

• Original: J:46243 Liu Y, et al., Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2503-8
• All: 8 reference(s)