Gm2a^tm1Rlp
Targeted Allele Detail

Summary

• Symbol: Gm2a^tm1Rlp
• Name: GM2 ganglioside activator protein; targeted mutation 1, Richard Proia
• MGI ID: MGI:1861930
• Synonyms: Gm2a-
• Gene: Gm2a Location: Chr11:54988941-55003855 bp, + strand Genetic Position: Chr11, 32.13 cM
• Alliance: Gm2a^tm1Rlp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:41950
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Disruption caused by insertion of vector
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Gm2a Mutation: 12 strains or lines available

References

• 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: 2 reference(s)