C1galt1^tm1.1Rpmc
Targeted Allele Detail

Summary

• Symbol: C1galt1^tm1.1Rpmc
• Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1; targeted mutation 1.1, Rodger P McEver
• MGI ID: MGI:3713768
• Synonyms: C1galt1^F, T-syn^F, Tsyn^F
• Gene: C1galt1 Location: Chr6:7845224-7872042 bp, + strand Genetic Position: Chr6, 3.37 cM, cytoband A1
• Alliance: C1galt1^tm1.1Rpmc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:122012
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: ES cells containing a loxP site 5' of exon 1 and a floxed neo in intron 2 were transfected with cre recombinase, resulting in the deletion of the neo. (J:122012)

Disease models

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 C1galt1 Mutation: 27 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Premature Ovarian Failure J:125880, J:237228.

In J:185823, deletion of the floxed C1galt1^tm1.1Rpmc alleles by Tg(Stra8-icre)1Reb occurred with ~80% efficiency. The mucin O-glycans produced by male germ cells showed the expected loss of expression of T antigen in all tubules. However, ~35% of tubules exhibited partial, apparently clonal, expression of T antigen, indicating incomplete deletion of the floxed alleles in some spermatogonia. Of note, a few unaffected sperm were detected in the epididymides, indicating that core 1- and 2-derived mucin O-glycans are not required for spermatogenesis.

References

• Original: J:122012 Williams SA, et al., Fertilization in mouse does not require terminal galactose or N-acetylglucosamine on the zona pellucida glycans. J Cell Sci. 2007 Apr 15;120(Pt 8):1341-9
• All: 23 reference(s)