Gaa^tm1.1Rabn
Targeted Allele Detail

Summary

• Symbol: Gaa^tm1.1Rabn
• Name: glucosidase, alpha, acid; targeted mutation 1.1, Nina Raben
• MGI ID: MGI:2179955
• Synonyms: delta6
• Gene: Gaa Location: Chr11:119158789-119176284 bp, + strand Genetic Position: Chr11, 83.35 cM, cytoband D-E
• Alliance: Gaa^tm1.1Rabn page

Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaa^tm1.1Rabn/Gaa^tm1.1Rabn mice

Show the 1 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: Intragenic deletion
• Mutation details: This allele is a derivative of Gaa^tm1Rabn in which Cre-mediated recombination in vivo excised the disrupted exon 6 and the neo gene under control of an adenovirus EIIa promoter, which confines the expression of Cre recombinase to an early stage of preimplantation development. RT-PCR analysis of muscle detected transcript produced by this allele of the size expected with exon 6 removed. Western blot analysis using rabbit antiserum to the human placental protein did not detect protein in liver from homozygous mutant mice. (J:48839)

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: 1 strain 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: 13 reference(s)