Gaa^tm1Rabn
Targeted Allele Detail

Summary

• Symbol: Gaa^tm1Rabn
• Name: glucosidase, alpha, acid; targeted mutation 1, Nina Raben
• MGI ID: MGI:2148550
• Synonyms: 6^neo, Gaa^-
• Gene: Gaa Location: Chr11:119158789-119176284 bp, + strand Genetic Position: Chr11, 83.35 cM, cytoband D-E
• Alliance: Gaa^tm1Rabn page

Abnormal lysosomal glycogen storage in heart and skeletal muscle of Gaa^tm1Rabn/Gaa^tm1Rabn mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:48839
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin cassette into floxed exon 6. No transcript derived from this gene was detected in skeletal muscle of homozygous mice by RT-PCR analysis, and no encoded protein was detected by Western blot in liver extracts from homozygous mice. (J:48839)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Gaa Mutation: 54 strains or lines available

References

• Original: J:48839 Raben N, et al., Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem. 1998 Jul 24;273(30):19086-92
• All: 58 reference(s)