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Targeted Allele Detail
Symbol: Gbatm1Rlp
Name: glucosidase, beta, acid; targeted mutation 1, Richard L Proia
MGI ID: MGI:2180202
Synonyms: GbaL444P, L444P
Gene: Gba  Location: Chr3:89110223-89116180 bp, + strand  Genetic Position: Chr3, 39.01 cM
Alliance: Gbatm1Rlp page
Phenotypes of Gbatm1Rlp/Gbatm1Rlp and Gbatm2Rlp/Gbatm2Rlp mice after birth

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

Germline Transmission:  Earliest citation of germline transmission: J:46243
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence, Hypomorph)
Mutation:    Nucleotide substitutions
Mutation detailsA proline to leucine substitution mutation at amino acid position 444 is associated with Gaucher disease type 3 in humans. This mutation was introduced in mice using a single insertion mutagenesis procedure. 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 9 anatomical structures
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 Gba Mutation:  34 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory