Gba1^tm2Rlp
Targeted Allele Detail

Summary

• Symbol: Gba1^tm2Rlp
• Name: glucosylceramidase beta 1; targeted mutation 2, Richard L Proia
• MGI ID: MGI:2180204
• Synonyms: RecNciI
• Gene: Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
• Alliance: Gba1^tm2Rlp page

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

Show the 1 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, Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: A leucine to proline substitution mutation at amino acid position 462 (444 in mature protein) (p.L462P), along with an alanine to proline substitution at position 474 (456 in mature protein) (p.A474P), is associated with Gaucher disease type 2 in humans. The same mutations were introduced in mice using a single insertion mutagenesis procedure, changing leucine codon 462 (TTG) to proline (CCG) and alanine codon 474 (GCA) to proline (CCA). 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 4-9% that of wild-type. (J:46243)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gba1 Mutation: 47 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: 3 reference(s)