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| Nomenclature |
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Symbol:
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Gm2atm1Rlp
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Name:
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GM2 ganglioside activator protein;
targeted mutation 1, Richard Proia
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MGI ID: |
MGI:1861930 |
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Synonyms: |
Gm2a- |
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Gene:
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Gm2a
Location:
Chr11:55098115-55113029 bp, + strand
Genetic Position: Chr11,
32.13 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:41950
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: A neomycin resistance cassette replaced 1-kb of the gene, resulting in the deletion of exon 3, intron 3, and part of exon 4. Northern blots of testis and kidney from homozygous mutant mice showed no detectable transcript for the targeted gene. (J:41950)
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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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| References |
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Original: |
J:41950
Liu Y et al.,
"Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment."
Proc Natl Acad Sci U S A 1997 Jul 22;94(15):8138-43
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All: |
1 reference(s)
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Analysis Tools
