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Cant1tm1.1Aros
Targeted Allele Detail
Nomenclature
Symbol: Cant1tm1.1Aros
Name: calcium activated nucleotidase 1; targeted mutation 1.1, Antonio Rossi
MGI ID: MGI:7264666
Synonyms: Cant1R302H
Gene: Cant1  Location: Chr11:118297115-118309912 bp, - strand  Genetic Position: Chr11, 83.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:282272
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J x 129
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA G to A transition at position 905 (c.G905A) resulting in an arginine to histidine substitution at amino acid 302 (p.R302H) was introduced in exon 4. In addition, an FRT-flanked neomycin selection cassette and loxP site were inserted upstream of exon 3 and a second loxP site was inserted downstream of mutated exon 4. The selection cassette was removed via flp-mediated recombination leading to the generation of knock-in mice bearing the R302H missense mutation. This mutation is homologous to the p.R300H substitution in the active site of the human gene which has been detected in patients with Desbuquois dysplasia type 1. (J:282272)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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 Cant1 Mutation:  21 strains or lines available
References
Original:  J:282272 Paganini C, et al., Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification. Matrix Biol. 2019 Aug;81:70-90
All:  1 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
08/09/2022
MGI 6.21
The Jackson Laboratory