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| Nomenclature |
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Symbol:
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Gaatm1.1Rabn
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Name:
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glucosidase, alpha, acid;
targeted mutation 1.1, Nina Raben
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MGI ID: |
MGI:2179955 |
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Synonyms: |
delta6 |
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Gene:
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Gaa
Location:
Chr11:119267887-119285454 bp, + strand
Genetic Position: Chr11,
83.35 cM, cytoband D-E
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Accumulation of lysosomal glycogen in skeletal muscle, heart and diaphragm of Gaatm1.1Rabn/Gaatm1.1Rabn mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:48839
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gaa Mutation:
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8 strains or lines available |
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
