Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Canxtm1.1Den
Name:	calnexin; targeted mutation 1.1, Angela Denzel
MGI ID:	MGI:2388910
Synonyms:	sCnx
Gene:	Canx  Location: Chr11:50184788-50216500 bp, - strand  Genetic Position: Chr11, 30.46 cM
Alliance:	Canxtm1.1Den page

Germline Transmission:	Earliest citation of germline transmission: J:79604
Parent Cell Line:	GK129 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: The floxed selection cassette that replaced a fragment encompassing 137 bp of exon 4, intron 4, and all of exon 5 was excised from Canxtm1Den by in vivo cre mediated recombination in the germline. Expression analysis identified a truncated protein, lacking residues encoded by exons 4, 5, and 6. The deleted region included cysteine residues 161 and 195 which form a disulfide bond, and tyrosine 165 and lysine 167 which are both involved with the glucose binding pocket. The deletion reportedly did not directly affect the ER targeting region, allowing for the possiblity for the truncated protein to localize to the ER. (J:79604)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Canx Mutation:	54 strains or lines available

Original:	J:79604 Denzel A, et al., Early postnatal death and motor disorders in mice congenitally deficient in calnexin expression. Mol Cell Biol. 2002 Nov;22(21):7398-404
All:	2 reference(s)