B4galnt1^tm1Rlp
Targeted Allele Detail

Summary

• Symbol: B4galnt1^tm1Rlp
• Name: beta-1,4-N-acetyl-galactosaminyl transferase 1; targeted mutation 1, Richard L Proia
• MGI ID: MGI:2158349
• Synonyms: Galgt1^-, GalNAcT -, Gg-null KO
• Gene: B4galnt1 Location: Chr10:127001094-127008199 bp, + strand Genetic Position: Chr10, 74.5 cM
• Alliance: B4galnt1^tm1Rlp page

Hexb^tm1Rlp/Hexb^tm1Rlp B4galnt1^tm1Rlp/B4galnt1^tm1Rlp mice have a hunched posture and are disheveled compared to B4galnt1^tm1Rlp/B4galnt1^tm1Rlp mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:53080
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A genomic fragment containing exon 6, 7 and part of 8 was replaced with a neomycin selection cassette. Northern blot analysis demonstrated that no detectable transcript was produced from this allele in the brain and liver of homozygous mice. (J:53080)

Expression

In Structures Affected by this Mutation:

3 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 B4galnt1 Mutation: 25 strains or lines available

References

• Original: J:53080 Liu Y, et al., A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder [see comments]. J Clin Invest. 1999 Feb;103(4):497-505
• All: 43 reference(s)