Gba1tm1Rlp
Targeted Allele Detail
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Symbol: |
Gba1tm1Rlp |
Name: |
glucosylceramidase beta 1; targeted mutation 1, Richard L Proia |
MGI ID: |
MGI:2180202 |
Synonyms: |
GbaL444P, L444P |
Gene: |
Gba1 Location: Chr3:89110235-89116273 bp, + strand Genetic Position: Chr3, 39.01 cM
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Alliance: |
Gba1tm1Rlp page
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Phenotypes of Gba1tm1Rlp/Gba1tm1Rlp and Gba1tm2Rlp/Gba1tm2Rlp mice after birth
Show the 5 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:46243
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Parent Cell Line: |
J1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Humanized sequence, Hypomorph) |
Mutation: |
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Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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) |
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