Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Gaatm1.1Rabn 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: Gaatm1.1Rabn page

Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaatm1.1Rabn/Gaatm1.1Rabn mice Show the 1 phenotype image(s) involving this allele.

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

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: This allele is a derivative of Gaatm1Rabn 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

6 anatomical structure(s)

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

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)