B4galnt1^tm1Sia
Targeted Allele Detail

Summary

• Symbol: B4galnt1^tm1Sia
• Name: beta-1,4-N-acetyl-galactosaminyl transferase 1; targeted mutation 1, Shinichi Aizawa
• MGI ID: MGI:2158348
• Synonyms: GalNAcT^-, GM2s-KO
• Gene: B4galnt1 Location: Chr10:127001094-127008199 bp, + strand Genetic Position: Chr10, 74.5 cM
• Alliance: B4galnt1^tm1Sia page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:35787
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin selection cassette was inserted into exon 4. TLC analysis demonstrated that GM2 or complex gangliosides were absent in the liver and brain of homozygous mice, and enzyme activity assays in liver and brain of homozygous mice confirmed that no functional protein was made from this allele. (J:35787)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any B4galnt1 Mutation: 25 strains or lines available

References

• Original: J:35787 Takamiya K, et al., Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10662-7
• All: 28 reference(s)