Gaa^tm1Vdp
Targeted Allele Detail

Summary

• Symbol: Gaa^tm1Vdp
• Name: glucosidase, alpha, acid; targeted mutation 1, Ans T van der Ploeg
• MGI ID: MGI:2179961
• Synonyms: AGLU-
• Gene: Gaa Location: Chr11:119158789-119176284 bp, + strand Genetic Position: Chr11, 83.35 cM, cytoband D-E
• Alliance: Gaa^tm1Vdp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:45386
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin resistance cassette into exon 13 disrupted the gene. RT-PCR studies of cultured tail cells using primers from exon 12 and exon 14 did not detect wild-type transcript in homozygous mutant mice. Enzyme activity assays of organs and cultured cells detected nearly no activity in homozygous mutant mice. Western blot analysis of several tissues using rabbit anti-human antibodies did not detect immunoprecipitated protein in homozygous mutant mice. (J:45386)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Gaa Mutation: 54 strains or lines available

References

• Original: J:45386 Bijvoet AG, et al., Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet. 1998 Jan;7(1):53-62
• All: 8 reference(s)