|
|
| Nomenclature |
|
Symbol:
|
Galnt3tcal
|
|
Name:
|
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3;
Familial Tumoural Calcinosis
|
|
MGI ID: |
MGI:5435287 |
|
Synonyms: |
Pebbles, Tcal |
|
Gene:
|
Galnt3
Location:
Chr2:66082766-66124994 bp, - strand
Genetic Position: Chr2,
38.99 cM, cytoband C3
|
|
Mutation
origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: These mice were identified in an ENU screen. DNA sequence analysis identified a Galnt3 missense mutation (Trp589Arg). (J:187064)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Galnt3 Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:187064
Esapa CT et al.,
"A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis."
PLoS One 2012;7(8):e43205
|
|
All: |
1 reference(s)
|
|
Analysis Tools
