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Xylt1npo
Chemically induced Allele Detail
Nomenclature
Symbol: Xylt1npo
Name: xylosyltransferase 1; napoleon
MGI ID: MGI:5563785
Synonyms: pug
Gene: Xylt1  Location: Chr7:116980214-117266853 bp, + strand  Genetic Position: Chr7, 62.93 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsENU 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 15 anatomical structures
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:  24 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory