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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Intragenic deletion
--
1
--
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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