Gaa^tm2Rabn
Targeted Allele Detail

Summary

• Symbol: Gaa^tm2Rabn
• Name: glucosidase, alpha, acid; targeted mutation 2, Nina Raben
• MGI ID: MGI:2179960
• Synonyms: delta14^neo
• Gene: Gaa Location: Chr11:119158789-119176284 bp, + strand Genetic Position: Chr11, 83.35 cM, cytoband D-E
• Alliance: Gaa^tm2Rabn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76435
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced approximately 1.3 kb of sequence, including exon 14. RT-PCR analysis of muscle using primers in exons 13 and 15 detected a low level of a truncated transcript in homozygous mutant mice, whereas RT-PCR studies using primers in exons 13 and 14 did not detect transcript in these mice. Western blot analysis of liver did not detect protein in homozygous mutant mice. (J:76435)

Disease models

Expression

In Structures Affected by this Mutation:

6 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:76435 Raben N, et al., Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene. Neuromuscul Disord. 2000 Jun;10(4-5):283-91
• All: 2 reference(s)