Xylt1^npo
Chemically induced Allele Detail

Summary

• Symbol: Xylt1^npo
• Name: xylosyltransferase 1; napoleon
• MGI ID: MGI:5563785
• Synonyms: pug
• Gene: Xylt1 Location: Chr7:116980214-117266853 bp, + strand Genetic Position: Chr7, 62.93 cM
• Alliance: Xylt1^npo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: ENU induced a point mutation (T to A) that results in the missense amino acid substitution of arginine for tryptophan at position 932 (W932R). This mutation results in a failure of the product to localize to the cis-Golgi. Expression of the mutant protein in a cell line results in reduced enzymatic activity. (J:205339)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

14 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 Xylt1 Mutation: 37 strains or lines available

References

• Original: J:205339 Mis EK, et al., Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. Dev Biol. 2014 Jan 1;385(1):67-82
• All: 2 reference(s)