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Targeted Allele Detail
Symbol: Gm2atm1Rlp
Name: GM2 ganglioside activator protein; targeted mutation 1, Richard Proia
MGI ID: MGI:1861930
Synonyms: Gm2a-
Gene: Gm2a  Location: Chr11:55098115-55113029 bp, + strand  Genetic Position: Chr11, 32.13 cM
Germline Transmission:  Earliest citation of germline transmission: J:41950
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutation:    Disruption caused by insertion of vector
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Gm2a Mutation:  5 strains or lines available
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
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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